Introducing the Match-Maker-Breaker Tool for Parental Phasing

A few days after I published the article, Concepts – Segment Size, Legitimate and False Matches, Philip Gammon, a statistician who lives in Australia, posted a comment to my blog.

Great post Roberta! I’m a statistician so my eyes light up as soon as I see numbers. That table you have produced showing by segment length the percentage that are IBD is one of the most useful pieces of information that I have seen. Two days to do the analysis!!! I’m sure that I could write a formula that would identify the IBD segments and considerably reduce this time.

By this time, my eyes were lighting up too, because the work for the original article had taken me two days to complete manually, just using segments 3 cM and above. Using smaller segments would have taken days longer. By manually, I mean comparing the child’s matches with that of both parents’ matches to see which, if either, parent the child’s match also matches on the same segment.

In the simplest terms, the Segment Size article explained how to copy the child’s and both parents’ matches to a spreadsheet and then manually compare the child’s matches to those of the parents. In the example above, you can see that both the child and the mother have matches to Cecelia. As it turns out, the exact same segment of DNA was passed in its entirety to the child from the mother, who is shown in pink – so Cecelia matches both the child and the parent on exactly the same segment.

That’s not always the case, and the Segment Size article went into much greater detail.

For the past month or so, Philip and I have been working back and forth, along with some kind volunteers who tested Philip’s new tool, in order to create something so that you too can do this comparison and in much less than two days.

Foundation

Here’s the underlying principle for this tool – if a child has a match that does NOT match either parent on the same segment, then the match is not a legitimate match. It’s a false match, identical by chance, and it is NOT genealogically relevant.

If the child’s match also matches either parent on the same segment, it is most likely a match by descent and is genealogically relevant.

For those of you who noticed the words “most likely,” yes, it is possible for someone to match a parent and child both and still not phase (or match) to the next higher generation, but it’s unusual and so far, only found in smaller segments. I wrote about multiple generation phasing in the article, “Concepts – Segment Survival – 3 and 4 Generation Phasing.” Once a segment phases, it tends to continue phasing, especially with segments above about 3.5 cM.

For those who have both parents available to test, phased matching is a HUGE benefit.

But I Have Only One Parent Available

You can still use the tool to identify matches to that one parent, but you CANNOT presume that matches that DON’T match that parent are from the other (missing) parent. Matches matching the child but not matching the tested parent can be due to:

  • A match to the missing parent
  • A false match that is not genealogically relevant

According to the statistics generated from Philip’s Match-Maker-Breaker tool, shown below, segments 9 cM and above tend to match one or the other parent 90% or more of the time.  Segments 12 cM and over match 97% of the time or more, so, in general, one could “assume” (dangerous word, I know) that segments of this size that don’t match to the tested parent would match to the other parent if the other parent was available. You can also see that the reliability of that assumption drops rapidly as the segment sizes get smaller.

Platform

This tool was written utilizing Microsoft Excel and only works reliably on that platform.

If you are using Excel and are NOT attempting to use MAC Numbers, skip this section.  If you want to attempt to use Numbers, read this section.

I tried, along with a MAC person, to try to coax Numbers (free MAC spreadsheet) into working. If you have any other option other than using Numbers, so do. Microsoft Excel for MAC seemed to work fine, but it was only tested on one MAC.

Here’s what I discovered when trying to make Numbers work:

  • You must first launch numbers and then select the various spreadsheets.
  • The tabs are not at the bottom and are instead at the top without color.
  • The instructions for copying the formulas in cells H2-K2 throughout the spreadsheet must be done manually with a copy/paste.
  • After the above step, the calculations literally took a couple hours (MacBook Air) instead of a couple minutes on the PC platform. The older MAC desktop still took significantly longer than on a Microsoft PC, but less time than the solid state MacBook Air.
  • After the calculations complete, the rows on the child’s spreadsheet are not colored, which is one of the major features of the Match-Maker-Breaker tool, as Numbers reports that “Conditional highlighting rules using formulas are not supported and were removed.”
  • Surprisingly, the statistical Reports page seems to function correctly.

How Long Does Running Match-Maker-Breaker Tool on a PC Take?

The first time I ran this tool, which included reading Philip’s instructions for the first time, the entire process took me about 10 minutes after I downloaded the files from Family Tree DNA.

Vendors

This tool only works with matches downloaded from Family Tree DNA.

Transfer Kits

It’s strongly suggested that all 3 individuals being compared have tested at Family Tree DNA or on the same chip version imported into Family Tree DNA.

Matches not run on the same chip as Family Tree DNA testers can only provide a portion of the matches that the same person’s results run on the FTDNA chip can provide. You can run the matching tool with transferred results, but the results will only provide a subset of the results that will be provided by having all parties that are being compared, meaning the child and both parents, test at Family Tree DNA.

The following products versions CAN be all be compared successfully at Family Tree DNA, as they all utilize the same Illumina chip:

  • All Family Finder tests
  • Ancestry V1 (before May 2016)
  • 23andMe V3 (before November 2013)
  • MyHeritage

The following tests do NOT utilize the same Illumina testing platform and cannot be compared successfully with Family Finder tests from Family Tree DNA, or the list above. Cross platform testing results cannot be reliably compared. Those that DO match will be accurate, but many will not match that would match if all 3 testers were utilizing the same platform, therefore leading you to inaccurate conclusions.

  • Ancestry V2 (beginning in May 2016 to present)
  • 23andMe V4 (beginning November 2013 to present)

The child and two parents should not be compared utilizing mixed platforms – meaning, for example, that the child should not have been tested at FTDNA and the parents transferred from Ancestry on the V2 platform since May 2016.

If any of the three family members, being the child or either parent, have tested on an incompatible platform, they should retest at Family Tree DNA before using this tool.

What You Need

  • You will need to download the chromosome match lists from the child and both parents, AT THE SAME TIME. I can’t stress this enough, because any matches that have been added for either of the three people at a later time than the others will skew the matching and the statistics. Matches are being added all the time.
  • You will also need a relatively current version of Excel on your computer to run this tool. No, I did not do version compatibility testing so I don’t know how old is too old. I am running MSOffice 2013.
  • You will need to know how to copy and paste data from and to a spreadsheet.

Instructions for Downloading Match Files

My recommendation is that you download your matches just before utilizing this tool.

To download your matches, sign on to each account. On your main page, you will see the Family Finder section, and the Chromosome Browser. Click on that link.

At the top of the chromosome browser page, below, you’ll see the image of chromosomes 1 through X. At the top right, you’ll see the option to “Download all matches to Excel (CSV Format). Click on that link.

Next, you’ll receive a prompt to open or save the file. Save it to a file name that includes the name of the person plus the date you did the download. I created a separate folder so there would be no confusion about which files are which and whether or not they are current.

Your match file includes all of your matches and the chromosome matching locations like the example shown below.

These files of matches are what you’ll need to copy into the Match-Maker-Breaker spreadsheet.

Do not delete any information from your match spreadsheets. If you normally delete small segments, don’t. You may cause a non-match situation if the parent carries a larger portion of the same segment.

You can rerun the Match-Maker-Breaker tool at will, and it only takes a very few minutes.

The Match-Maker-Breaker Tool

The Match-Maker-Breaker Tool has 5 sheets when you open the spreadsheet:

  • Instructions – Please read entirely before beginning.
  • Results – The page where your statistical results will be placed.
  • Child – The page where you will paste the child’s matches and then look at the match results after processing.
  • Father – The page where you will paste the father’s matches.
  • Mother – The page where you will paste the mother’s matches.

Download

Download the free Match-Maker-Breaker tool which is a spreadsheet by clicking on this link: Match-Maker-Breaker Tool V2

Please don’t start using the tool before reading the instructions completely and reading the rest of this article.

Make a Copy

After you download the tool, make a copy on your system. You’ll want to save the Match-Maker-Breaker spreadsheet file for each trio of people individually, and you’ll want a fresh Match-Maker-Breaker spreadsheet copy to run with each new set of download files.

Instructions

I’m not going to repeat Philip’s instructions here, but please read them entirely before beginning and please follow them exactly. Philip has included graphic illustrations of each step to the right of the instruction box. The spreadsheet opens to the Instructions page. You can print the instruction page as well.

Copy/Pasting Data

When copying the parents’ and child’s data into the spreadsheets, do NOT copy and paste the entire page by selecting the page. Select and copy the relevant columns by highlighting columns A through G by touching your cursor to the A-G across the top, as shown below.  After they are selected, then click on “copy.” In the child’s chromosome browser download spreadsheet, position the curser in the first cell in row 1 in the child’s page of the Match-Maker-Breaker spreadsheet and click on “paste.”

Do NOT select columns H-K when highlighting and copying, or your paste will wipe out Philip’s formulas to do calculations on the child’s tab on the spreadsheet.

The example above, assuming that Annie is the last entry on the spreadsheet, shows that I’ve highlighted all of the cells in columns A-G, prior to executing the copy command. Your spreadsheets of course will be much longer.

I wrote a very quick and dirty article about using Excel here

The Match Making Breaking Part

After you copy the formulas from rows H2 to K2 through the rest of the spreadsheet by following Philip’s instructions, you’ll see the results populating in the status bar at the bottom. You’ll also see colors being added to the matches on the left hand side of the spreadsheet page and counts accruing in the 4 right columns. Be patient and wait. It may take a few minutes. When it’s finished, you can verify by scrolling to the last row on the child’s page and you’ll see something like the example below, where every row has been assigned a color and every match that matches the child and the father, mother, both or is found in the HLA region is counted as 1 in the right 4 columns.

In this example, 5 segments, shown in grey, don’t match anyone, one, shown in tan is found in the HLA region, and three match the father, in blue.

Output

After you run the Match-Maker-Breaker tool, the child’s matches on the Child tab will be identified as follows:

This means that segment of the child that matches that individual also matches the father, the mother, both parents, the HLA region, or none of the above on all or part of that same segment.

What is a Match?

Philip and I worked to answer the question, “what is a match?” In the Concepts article, I discussed the various kinds of matches.

  • Full match: The child’s match and parent’s match share the same exact segment, meaning same start and end points and same number of SNPs within that segment.
  • Partial match: The child’s match matches a portion of the segment from the parent – meaning that the child inherited part of the segment, but not the entire segment.
  • Overhanging match: The child’s match matches part or all of the parent’s segment, but either the beginning or end extends further than the parents match. This means that the overlapping portion is legitimate, meaning identical by descent (IBD), but the overhanging portion is identical by chance (IBC.)
  • Nested match: The child’s match is smaller than the match to the parent, but fully within the parent’s match, indicating a legitimate match.
  • No match: The person matches the child, but neither parent, meaning that this match is not legitimate. It’s identical by chance (IBC).

Full matches and no matches are easy.

However, partial matches, overlapping matches and nested matches are not as straightforward.

What, exactly, is a match? Let’s look at some different scenarios.

If someone matches a parent on a large segment, say 20cM, and only matches the child on 2cM, fully within the parent’s segment, is this match genealogically relevant, or could the match be matching the child by chance on a part of the same segment that they match the parents by descent? We have no way to know for sure, just utilizing this tool. Hopefully, in this case, the fact that the person matches the parent on a large segment would answer any genealogical questions through triangulation.

If the person matches the parent but only matches the child on a small portion of the same segment plus an overhanging region, is that a valid match? Because they do match on an overhanging region, we know that match is partly identical by chance, but is the entire match IBC or is the overlapping part legitimate? We don’t know. Partly, how strongly I would consider this a valid match would be the size of the matching portion of the segment.

One of the purposes of phasing and then looking at matches is to, hopefully, learn more about which matches are legitimate, which are not, and predictors of false versus legitimate matches.

Relative to this tool, no editing has been done, meaning that matches are presented exactly as that, regardless of their size or the type of match. A match is a match if any portion of the match’s DNA to the child overlaps any portion of either or both parent’s DNA, with the exception of part of chromosome 6. It’s up to you, as the genealogist, to figure out by utilizing triangulation and other tools whether the match is relevant or not to your genealogy.

If you are not familiar with identical by descent (meaning a legitimate match), identical by population (IBP) meaning identical by descent but because the population as a whole carries that segment and identical by chance (IBC) meaning a false match, the article Identical by…Descent, State, Population and Chance explains the terms and the concepts so that you can apply them usefully.

About Chromosome 6

After analyzing the results of several people, the area of chromosome 6 that includes the HLA region has been excluded from the analysis. Long known to be a pileup region where people carry significant segments of the same DNA that is not genealogically relevant (meaning IBP or identical by population,) this region has found to be often unreliable genealogically, and falls outside the norm as compared to the rest of the segments. This area has been annotated separately and excluded from match results. This was the only region found to universally have this effect.

This does not mean that a match in this region is positively invalid or false, but matches in the HLA region should be viewed very skeptically.

The Results Tab – Statistics

Now that you’ve populated the spreadsheet and you can see on the Child tab which matches also match either or both parents, or neither, or the HLA region, go to the Results tab of the spreadsheet.

This tab gives you some very interesting statistics.

First, you’ll see the number and percent of matches by chromosome.

The person compared was a female, so she would have X matches to both parents. However, notice that X matching is significantly lower than any of the other chromosomes.

Frankly, I’ve suspected for a long time that there was a dramatic difference in matching with the X chromosome, and wrote about it here. It was suggested by some at the time that I was only reporting my personal observations that would not hold beyond a few results (ascertainment bias), but this proves that there is something different about X chromosome matching. I don’t know what or why, but according to this data that is consistent between all of the beta testers, matching to the X chromosome is much less reliable.

The second statistics box you will see are statistics for the matches to the child that also match the parents. The actual matches of the child to the parents are shown as the 23 shown under “excluded from calculations.”

The next group of statistics on your page will be your own, but for this example, Philip has combined the results from several beta testers and provided summary information, so that the statistics are not skewed by any one individual.

Next, the match results by segment size for chromosomes 1-22. Philip has separated out segments with less than 500 SNPs and reports them separately.

You will note that 90% or more of the segments 9 cM and above match one of the two parents, and 97% or more of segments 12cM or above.

The X chromosome follows, analyzed separately. You’ll notice that while 27% of the matches on chromosomes 1-22 match one or both parents, only 14% of the X matches do.

Even with larger segments, not all X segments match both the child and the parents, suggesting that skepticism is warranted when evaluating X chromosome matches.

Philip then calculated a nice graph for showing matching autosomal segments by cM size, excluding the X.

The next set of charts shows matches by SNP density. Many people neglect SNP count when evaluating results, but the higher the SNP count, the more robust the match.

Note that SNP density above 2,200 almost always matched, but not always, while SNP density of 2,800 reaches the 97% threshold..

The X chromosome, by SNP count, below.

X segment reach the 100% threshold about 1600, however, we really need more results to be predictive at the same level as the results for chromosomes 1-22.  Two data samples really isn’t adequate.

Once again, Philip prepared a nice chart showing percentage of matching segments by SNP count, below.

Predictive

In the Segment Survival – 3 and 4 Generation Phasing article, one can see that phased matches are predictive, meaning that a child/parent match is highly suggestive that the segment is a valid segment match and that it will hold in generations further upstream.

Several years ago, Dr. Tim Janzen, one of the early phasing pioneers, suggested that people test their children, even if both parents had already tested. For the life of me, I couldn’t understand how that would be the least bit productive, genealogically, since people were more likely to match the parents than the children, and children only carry a subset of their parent’s DNA.

However, the predictive nature of a segment being legitimate with a child/parent match to a third party means that even in situations where your own parent isn’t available, a match by a third party on the same segment with your child suggests that the match is legitimate, not IBC.

In the article, I showed both 3 and 4 generations of phased comparisons between generations of the same family and a known cousin. The results of the 5 different family comparisons are shown below, where the red segments did not phase or lost phasing between generations, and the green segments did phase through multiple generations.

Very, very few segments lost phasing in upper (older) generations after matching between a parent and a child. In the five 4-generation examples above, only a total of 7 groups of segments lost phasing. The largest segment that lost phasing in upper generations was 3.69 cM. In two examples, no segments were lost due to not phasing in upper generations.

The net-net of this is that you can benefit by testing your children if your parents aren’t available, because the matches on the segment to both you and the child are most likely to be legitimate. Of course, there will be segments where someone matches you and not your child, because your child did not inherit that segment of your DNA, and those may be legitimate matches as well. However, the segments where you and your child both match the same person will likely be legitimate matches, especially over about 3.5 cM. Please read the Segment Survival article for more details.

If you want to order additional Family Finder tests for more family members, you can click here.

Group Analysis

Philip has performed a group analysis which has produced some expected results along with some surprising revelations. I’d prefer to let people get their feet wet with this tool and the results it provides before publishing the results, with one exception.

In case you’re wondering if the comparisons used as examples, above, are representative of typical results, Philip analyzed 10 of our beta testers and says the following:

The results are remarkably consistent between all 10 participants. Summing it up in words: with each person that you match you will have an average of 11 matching segments. Three will be genuine and will add to [a total of] 21 cM. Eight will be false and add to [a total of] 19 cM.

Philip compiled the following chart summarizing 10 beta testers’ results. Please note that you can click to enlarge the images.

The X, being far less consistent, is shown below.

We Still Need Endogamous Parent-Child Trios

When I asked for volunteer testers, we were not able to obtain a trio of fully endogamous individuals. Specifically, we would like to see how the statistics for groups of non-endogamous individuals compare to the statistics for endogamous individuals.

Endogamous groups include people who are 100% Jewish, Amish, Mennonite, or have a significant amount of first or second cousin marriages in recent generations.

Of these, Jewish families prove to be the most highly endogamous, so if you are Jewish and have both Jewish parents’ DNA results, please run this tool and send either Philip or me the resulting spreadsheet. Your results won’t be personally identified, only the statistics used in conjunction with others, similar to the group analysis shown above. Your results will be entirely anonymous.

Philip’s e-mail is philip.gammon@optusnet.com.au and you can reach me at roberta@dnaexplain.com.

Caveat

Philip has created the Match-Maker-Breaker tool which is free to everyone. He has included some wonderful diagnostics, but Philip is not providing individual support for the tooI. In other words, this is a “what you see is what you get” gift.

Thank You and Acknowledgements

Of course, a very big thank you to Philip for creating this tool, and also to people who volunteered as alpha and beta testers and provided feedback. Also thanks to Jim Kvochick for trying to coax Numbers into working.

Match-Maker-Breaker Author Bio:

Philip’s official tagline reads: Philip Gammon, BEng(ManSysEng) RMIT, GradDipSc(AppStatistics) Swinburne

I asked Philip to describe himself.

I’d describe myself as a business analyst with a statistics degree plus an enthusiastic genetic genealogist with an interest in the mathematical and statistical aspects of inheritance and cousinship.

The important aspect of Philip’s resume is that he is applying his skills to genetic genealogy where they can benefit everyone. Thank you so much Philip.

Watch for some upcoming guest articles from Philip.

______________________________________________________________

Disclosure

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Thank you so much.

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Concepts – Segment Survival – 3 and 4 Generation Phasing

Have you ever had something you need to refer back to and can’t find it? I do this more often than I care to admit.

About a year ago, I did a study when I was writing the “Concepts – Parental Phasing” article where I tracked segment matches from generation to generation through three generations.

I wanted to see how small versus large segments faired during the phasing process with a known relative. In other words, if a known relative matches a child and a parent on the same segment, does that known relative also match the relevant grandparent on that same segment, or is that match ”lost” in the older generation.

This first example shows the tester matching all 4 generations of the Curtis lineage.

The second example, below, shows the Tester matching only the two youngest generations, but not the Grandparent or Great-grandparent.

Obviously, the tester cannot match the child and parent without also matching the grandparent and great-grandparents, who have also tested, for the segment to be genealogically relevant, meaning passed from the common ancestor to both the tester and the descendants in the Curtis line.  For the match between the tester and the parent/child to be valid, meaning the DNA descended from the common ancestor, the DNA segment MUST also be carried by the Grandparent and Great-grandmother.

If the segment matches all four people, then it phases through all generations and is a solid phased match.

If the segment matches only two contiguous generations, and not the older generation, as shown above, the segment is identical by chance in the younger generations, and is not genealogically relevant.

A third situation is clearly possible, where the tester matches the older generation or generations, but not the younger. In this case, the DNA simply did not get passed on down to the younger generations. In the example shown below, the segment still phases between the Grandparent and the Great-grandmother.

I’ve extracted the results from the original article and am showing them here, along with a 4 generation study utilizing 5 different examples.

The results are important because they were unexpected, as far as I was concerned.

Let’s take a look at the original results first.

Original Study – 3 Generations – 2 Meiosis

In the first study comparing three generations, I compared four different groups of people to a known relative in their family line. None of the family groups included any of the same people.

If the known relative matches the youngest generations, meaning the child and the parent, both, the location was colored green. This means the match phased through one generation. If the known relative also matched the third generation, the grandparent, on that same location, the location remained green. If the known relative did not match the oldest generation in addition to the child and the parent, then the location was changed to red, because the phasing was lost.

Green means that the matches did phase in all three generations and red means they either did not phase or the phasing was “lost” in the older generation.  Lost, in this instance, means the DNA match never happened and it was “lost” during the analysis process.

I followed this same process for 4 separate groups of three individuals, resulting in the following distribution of matching segments through all three generations (green), versus segments that matched the younger two generations but not the older generation (red) or don’t phase at all, meaning they match only one of the two younger relatives.

I marked what appears to be a threshold with a black line.

As you can see, the phasing threshold cutoff appears to be someplace between 2.46 and 3.16 cM. These matches are through Family Tree DNA, so all SNPs will be 500 or over. In other words, almost all segments below that line phased to all three generations. Many or most segments above that line were lost in upstream generations. This means they were false matches, or identical by chance (IBC).

More segments phased to earlier generations than I expected.  I was especially surprised at the number of small segments and the low threshold, so I was anxious to see if the pattern held when utilizing 4 generations which involves 3 meiosis..

New Study – 4 Generations – 3 Meiosis

In any one generation, a match can occur by chance, but once the match has phased through the parent’s generation, meaning the cousin matches the child AND the parent on the same segment, it’s easy to assume that they would, logically, match through the next two generations upwards as well. But do they? Let’s take a look.

Instead of just the summary information provided in the 3 generation study, I’m going to be showing you the three steps in the evaluation process for each example we discuss. I think it will help to answer questions, as well as to enable you to follow these same steps for your own family.

In total, I did 5 separate 4 generation comparisons, labeled as Examples 1-5, below.

Example 1 – 4 Generation – 3 Meiosis (DL)

A known cousin was compared up the tree on the relevant line through 4 generations. The relationship of the testers is shown in the chart above, with the blue arrows.

On the Curtis line, 4 individuals in descending generations were tested:

  • Child
  • Parent
  • Grandparent
  • Great-grandparent

In the Solomon line, one descendant was tested.

The results show the DNA segments that phased for 2, 3 and 4 generations, which is a total of 3 meiosis, meaning three times that the DNA was passed from generation to generation between the Great-grandparent and the Child.

The individual whose matches are tracked below is a third cousin to the Great-grandparent of the group. The relationship of the cousin to the descendants of the great-grandparent is shown below.

In reality, the distance of the cousin relationship isn’t really relevant. The relevant aspect is that the cousin DOES match all 4 relatives that tested, and we can track the segments that the cousin matches to the child, parent or grandparent back through the great-grandparent to see if they phase, meaning to see if the match is legitimate or not. In other words, was the segment passed from the Great-grandparent to the Grandparent to the Parent to the Child?

This first chart shows the cousin’s matches to all 4 of the family members. I’ve colored them green if they have phased matches, meaning adjacent generations on the same segment. In the comment column, I’ve explained what you are seeing.

This chart is a little more complex than previously, because we are dealing with 4 generations instead of 3. Therefore, I’m showing the cousin’s matches to all 4 individuals.

  • For a location to have no color and be labeled “No Phased Match” means that there was a match to one family member, but not to the adjacent generation upstream, so it’s not a genealogically relevant match. In other words, it’s a false match.
  • For a location to have no color and be labeled “Oldest Gen Only” means that the cousin matches the great-grandmother only. Those matches may be genealogically relevant, but because we don’t have a generation upstream of her, we can’t phase them and can’t tell if they are relevant or not based only on the information we have here. Obviously you’ll want to evaluate each match individually to see if it is a legitimate or false match using additional criteria.
  • For a location to be colored green, it must phase entirely for all the generations from where it begins upwards in the tree. For some matches, that means all 4 generations. Some matches that do phase only phase for 2 or 3 generations, meaning that the segment did not get passed on to younger generations. The two shades of green are only to differentiate the match groups when they are adjacent on the spreadsheet.
  • If the cell is green and says “4 Gen Match,” it means that the match appeared in all 4 generations and matched (or at least overlapped.)
  • If the cell is green and says “3 Gen Match,” it means that the match appeared in the oldest 3 generations and matched. The match did NOT appear in the child’s generation, so what we know about this segment is that it did not get passed to the child, but in the three generations in which it does appear, it phased.
  • If the cell is green and says “2 Gen Match,” it means that it appeared in the oldest two generations and phased, but did NOT get passed to the parent, so it could not have been passed to the child.
  • Matches to any single generation (but not the immediate upstream generation) are labeled “No Phased Match.”
  • If the cell is red and says “Lost Phasing” it means that the segment phased in at least two generations but did NOT match the adjacent generation upstream. Therefore, this is an example of a segment that did phase in one generation, but that was actually identical by chance (IBC) further upstream. In the case of the red segments above, they phased in all three of the younger generations, only to become irrelevant in the oldest generation when the tester did not match the Great-grandmother.

Now, looking at the same segment chart sorted by centiMorgan size.

Sorted by centiMorgan size gives you the opportunity to note that the larger segments are much more likely to phase, when given the opportunity. Translated, this means they are much more likely to be legitimate segments.

Formatted in the same way as the 3 generation groups, we see the following chart of only the segments, with the matches that were to the oldest generation only removed because they did not have the opportunity to phase. What we have below are the results for the matches that did have the opportunity to phase:

  • Green means the segment did phase
  • Red Means the segment did not phase and/or lost phasing.
  • White rows that did NOT phase are red above, along with rows that lost phasing.
  • White rows that are labeled “Oldest Gen Only” were removed because they are the oldest generation and did not have the opportunity to phase with an older generation.
  • For details, refer to the original charts, above.

Example 2 – 4 Generation – 3 Meiosis (CF-SV)

A second 4 generation comparison with a first cousin to the Great-grandmother results in more matches due to the closeness of the relationship, yielding additional information.

The 4 individuals in this and the following 3 examples are related in the following fashion:

Child 1 and Child 2 are siblings and Cousin 1 and Cousin 2 are siblings.

The two cousins are first cousins to the great-grandmother, so related to the matching individuals in the following fashion:

Because first cousins are significantly closer than third cousins, we have a lot more matching segments to work with.

It’s worth noting in the above chart that the two groups colored with gold in the right column both look like they phase, but when you look at the relationships of the people involved, you quickly realize that an intermediate generation is missing.

In the first example, the Grandparent and Great-grandmother do phase, but the child does not, because the cousin doesn’t also match the parent on that segment, so the parent could NOT have passed that segment to the child.  Therefore, the child does not phase.

In the second example, the cousin matches the Parent and Great-Grandmother, but the parent is missing in the match sequence, so these people don’t phase at all.

Sorted by centiMorgan size, we see the following.

Formatted by phased segment size, where red means did not phase or lost phasing and green means phased, we see the following pattern emerge.

Example 3 – 4 Generation – 3 Meiosis (CF-PV)

The next comparison is the still Cousin 1 but compared to Child 2.

In this case, three segments lost phasing when compared to older generations. They look like they phased when comparing the cousin to the Parent and Child, but we know they don’t because they don’t match the Grandparent, the next adjacent generation upstream.

Sorted by centiMorgan size, we see the following:

It’s interesting that all of the segments that lost phasing were quite small.

Formatted by segment size where red equals segments that did not phase or lost phasing and green equals segments that did phase.

Example 4 – 4 Generations – 3 Meiosis (DF-SV)

The fourth example utilizes Cousin 2 and Child 1.

In this comparison, no segments lost phasing, so there are no red segments.

Sorted by centiMorgan size, above and phased versus unphased segments, below.

Example 5 – 4 Generations – 3 Meiosis (DF-PV)

This last example utilizes the results of Cousin 2 matching to Child 2.

Again we have a group identified by gold in the last column that looks like a phased group if you’re just looking at the chromosome start and end locations, until you notice that the Grandparent is missing. The Parent and Child do share an overlapping segment mathematically, and it appears that this is part of the Great-grandmother’s segment, but it isn’t because the segment did not pass through the Grandparent. Of course, there is always a small possibility that there is a read issue with the grandparent’s file in this location, but as it stands, the parent and child’s matching segment loses phasing because it does not phase to the grandparent.

Again, three segments lost phasing.

Above, the spreadsheet sorted by centiMorgan value and below, by phased and unphased segments.

Side By Side Comparison

This side by side comparison shows the 5 different comparisons of 4 generations and 3 meiosis.

The pattern looks very similar and is almost identical in terms of the threshold to the original 3 generation study.  The 3 gen study thresholds varied from 2.46 to 3,16.  The largest 3 generation unphased segments were 3.36, 4.16, 4.75 and 6.05.

This suggests that your results with a 3 generation study are probably nearly just as reliable as a 4 generation study, although we did see one instance where phasing was lost after three matching generations. However, evaluating that match itself reveals that it was certainly highly questionable with the Parent carrying more of the “matching” segment to the Child than the Grandparent carried. While it was technically a 3 generation match before losing phasing, it wasn’t a solid match by any means.

With more test data, this could also mean that off-shifted matches or questionable matches are more likely to not phase or fail in higher generations.  I wrote here about methodologies for determining legitimate and false matches.

Discussion

I assembled a summary of the pertinent information from the five different 4 generation charts.

  • As expected, very small segments often did not phase. However, around the 3.5 cM region, they began to phase and reliably so. However, some larger segments, one as large as 7.13, did not phase.
  • It appears from the small number of segments that lost phasing that most of the time, if a segment does phase with the next generation upstream, it’s a valid segment and will continue to phase upwards.
  • Occasionally, phased segments are not valid and fail a “test” further up the tree. These are the segments that “lost phasing.”
  • The segments that did lose phasing were smaller segments with the largest at 3.68 cM.
  • Phasing, even in small segments, seems to be a relatively good predictor of a segment that is identical by descent, as determined by continuing to match ancestral segments on up the tree.

Of course, additional matches with cousins on the same segments would strengthen the argument as well, with or without phasing. Genetic genealogists are always looking for more information and ways to strengthen our evidence of connections with our cousins and family members. After all, that’s how we positively identify segments attributable to specific ancestors.

Testing Your Own Family

If you have either 3 or 4 individuals in descending generations, you can reproduce these same kinds of results for yourself. It’s actually easy and you can use the charts, methodology and color coding above as a guide.

You will need a relative that matches on the side of the oldest generation. In this case, the relatives were cousins of the great-grandmother. The relative will need to match the other two or three downstream people as well, meaning the direct descendants of the oldest relative. By copying the cousin’s entire match list from the Family Finder chromosome browser, you will be able to delete all matches other than to the people in your family group and compare the results using the same methodology I have shown.

If you don’t have access to the cousin’s match list, you can copy the matches to the cousin from the family member’s match lists and combine them into one spreadsheet.  The outcome is the same, but it’s easier if you have access to the cousin’s matches because you only have to download one file instead of 4.

What Can I Do With This Information?

Based on identifying segments as legitimate or false matches, you can label your DNA Master Spreadsheet with the information you’ve gleaned from the process. I’ve done that with just phasing to my mother. Studies such as this give me confidence that the larger phased segments with my mother are legitimate; even some segments below 5 cM and as low as 3.5 cM that DO phase.

These results and this article is NOT a suggestion that people should assume that ALL smaller segment matches are legitimate, because they aren’t. These studies are attempts to figure out HOW to discern which segments are valid and how to go about that process, including small segments. We now have three tools that can be utilized either together or individually:

  • Parental phasing
  • Multi-generation phasing, utilizing the parental phasing tools
  • Cousin Matching to phased segments, which is what we did in this article
  • Family Tree DNA‘s Family Phasing which in essence does this sort of matching for you, labeling your matches as to the side they descend from.

From the phasing information we’ve discovered, it appears that most segments below 3.5 cM aren’t going to phase and the majority are NOT legitimate matches.

This is a limited study.  Additional information could change and would certainly add to this information.

More is Better

As always, more data is always better.  Additional examples of results using this same phasing/cousin matching technique would allow quantification of the reliability of phased results as compared to unphased results.  In other words we know already that phased results are much better and more reliable than unphased results, but how much more and what are the functional limits of phased results?

There really is no question about the reliability of phased results in regard to larger segments, but additional information would help immensely in understanding how to successfully utilize smaller phased segments, in the range of 3.5 to 8 cM.

I would also suspect that in endogamous families, the thresholds observed here will move, probably with the phasing threshold moving even lower. People from fully endogamous cultures have many legitimate common small segments from sharing ancient ancestors. It would be interesting to observe the effects of endogamy on the observations made here.

I’m not Jewish and don’t have access to Jewish family information, but if several Jewish readers have tested multi-generational family and have a cousin from that side to test against, I would be glad to publish a followup article similar to this one with endogamous information.

It’s so exciting to be on the forefront of this wonderful genetic genealogy frontier together and to be able to experiment and learn.

I hope you use this methodology to explore, have fun and discover new information about your family.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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Concepts – Segment Size, Legitimate and False Matches

Matchmaker, matchmaker, make me a match!

One of the questions I often receive about autosomal DNA is, “What, EXACTLY, is a match?”  The answer at first glance seems evident, meaning when you and someone else are shown on each other’s match lists, but it really isn’t that simple.

What I’d like to discuss today is what actually constitutes a match – and the difference between legitimate or real matches and false matches, also called false positives.

Let’s look at a few definitions before we go any further.

Definitions

  • A Match – when you and another person are found on each other’s match lists at a testing vendor. You may match that person on one or more segments of DNA.
  • Matching Segment – when a particular segment of DNA on a particular chromosome matches to another person. You may have multiple segment matches with someone, if they are closely related, or only one segment match if they are more distantly related.
  • False Match – also known as a false positive match. This occurs when you match someone that is not identical by descent (IBD), but identical by chance (IBC), meaning that your DNA and theirs just happened to match, as a happenstance function of your mother and father’s DNA aligning in such a way that you match the other person, but neither your mother or father match that person on that segment.
  • Legitimate Match – meaning a match that is a result of the DNA that you inherited from one of your parents. This is the opposite of a false positive match.  Legitimate matches are identical by descent (IBD.)  Some IBD matches are considered to be identical by population, (IBP) because they are a result of a particular DNA segment being present in a significant portion of a given population from which you and your match both descend. Ideally, legitimate matches are not IBP and are instead indicative of a more recent genealogical ancestor that can (potentially) be identified.

You can read about Identical by Descent and Identical by Chance here.

  • Endogamy – an occurrence in which people intermarry repeatedly with others in a closed community, effectively passing the same DNA around and around in descendants without introducing different/new DNA from non-related individuals. People from endogamous communities, such as Jewish and Amish groups, will share more DNA and more small segments of DNA than people who are not from endogamous communities.  Fully endogamous individuals have about three times as many autosomal matches as non-endogamous individuals.
  • False Negative Match – a situation where someone doesn’t match that should. False negatives are very difficult to discern.  We most often see them when a match is hovering at a match threshold and by lowing the threshold slightly, the match is then exposed.  False negative segments can sometimes be detected when comparing DNA of close relatives and can be caused by read errors that break a segment in two, resulting in two segments that are too small to be reported individually as a match.  False negatives can also be caused by population phasing which strips out segments that are deemed to be “too matchy” by Ancestry’s Timber algorithm.
  • Parental or Family Phasing – utilizing the DNA of your parents or other close family members to determine which side of the family a match derives from. Actual phasing means to determine which parts of your DNA come from which parent by comparing your DNA to at least one, if not both parents.  The results of phasing are that we can identify matches to family groups such as the Phased Family Finder results at Family Tree DNA that designate matches as maternal or paternal based on phased results for you and family members, up to third cousins.
  • Population Based Phasing – In another context, phasing can refer to academic phasing where some DNA that is population based is removed from an individual’s results before matching to others. Ancestry does this with their Timber program, effectively segmenting results and sometimes removing valid IBD segments.  This is not the type of phasing that we will be referring to in this article and parental/family phasing should not be confused with population/academic phasing.

IBD and IBC Match Examples

It’s important to understand the definitions of Identical by Descent and Identical by Chance.

I’ve created some easy examples.

Let’s say that a match is defined as any 10 DNA locations in a row that match.  To keep this comparison simple, I’m only showing 10 locations.

In the examples below, you are the first person, on the left, and your DNA strands are showing.  You have a pink strand that you inherited from Mom and a blue strand inherited from Dad.  Mom’s 10 locations are all filled with A and Dad’s locations are all filled with T.  Unfortunately, Mother Nature doesn’t keep your Mom’s and Dad’s strands on one side or the other, so their DNA is mixed together in you.  In other words, you can’t tell which parts of your DNA are whose.  However, for our example, we’re keeping them separate because it’s easier to understand that way.

Legitimate Match – Identical by Descent from Mother

matches-ibd-mom

In the example above, Person B, your match, has all As.  They will match you and your mother, both, meaning the match between you and person B is identical by descent.  This means you match them because you inherited the matching DNA from your mother. The matching DNA is bordered in black.

Legitimate Match – Identical by Descent from Father

In this second example, Person C has all T’s and matches both you and your Dad, meaning the match is identical by descent from your father’s side.

matches-ibd-dad

You can clearly see that you can have two different people match you on the same exact segment location, but not match each other.  Person B and Person C both match you on the same location, but they very clearly do not match each other because Person B carries your mother’s DNA and Person C carries your father’s DNA.  These three people (you, Person B and Person C) do NOT triangulate, because B and C do not match each other.  The article, “Concepts – Match Groups and Triangulation” provides more details on triangulation.

Triangulation is how we prove that individuals descend from a common ancestor.

If Person B and Person C both descended from your mother’s side and matched you, then they would both carry all As in those locations, and they would match you, your mother and each other.  In this case, they would triangulate with you and your mother.

False Positive or Identical by Chance Match

This third example shows that Person D does technically match you, because they have all As and Ts, but they match you by zigzagging back and forth between your Mom’s and Dad’s DNA strands.  Of course, there is no way for you to know this without matching Person D against both of your parents to see if they match either parent.  If your match does not match either parent, the match is a false positive, meaning it is not a legitimate match.  The match is identical by chance (IBC.)

matches-ibc

One clue as to whether a match is IBC or IBD, even without your parents, is whether the person matches you and other close relatives on this same segment.  If not, then the match may be IBC. If the match also matches close relatives on this segment, then the match is very likely IBD.  Of course, the segment size matters too, which we’ll discuss momentarily.

If a person triangulates with 2 or more relatives who descend from the same ancestor, then the match is identical by descent, and not identical by chance.

False Negative Match

This last example shows a false negative.  The DNA of Person E had a read error at location 5, meaning that there are not 10 locations in a row that match.  This causes you and Person E to NOT be shown as a match, creating a false negative situation, because you actually do match if Person E hadn’t had the read error.

matches-false-negative

Of course, false negatives are by definition very hard to identify, because you can’t see them.

Comparisons to Your Parents

Legitimate matches will phase to your parents – meaning that you will match Person B on the same amount of a specific segment, or a smaller portion of that segment, as one of your parents.

False matches mean that you match the person, but neither of your parents matches that person, meaning that the segment in question is identical by chance, not by descent.

Comparing your matches to both of your parents is the easiest litmus paper test of whether your matches are legitimate or not.  Of course, the caveat is that you must have both of your parents available to fully phase your results.

Many of us don’t have both parents available to test, so let’s take a look at how often false positive matches really do occur.

False Positive Matches

How often do false matches really happen?

The answer to that question depends on the size of the segments you are comparing.

Very small segments, say at 1cM, are very likely to match randomly, because they are so small.  You can read more about SNPs and centiMorgans (cM) here.

As a rule of thumb, the larger the matching segment as measured in cM, with more SNPs in that segment:

  • The stronger the match is considered to be
  • The more likely the match is to be IBD and not IBC
  • The closer in time the common ancestor, facilitating the identification of said ancestor

Just in case we forget sometimes, identifying ancestors IS the purpose of genetic genealogy, although it seems like we sometimes get all geeked out by the science itself and process of matching!  (I can hear you thinking, “speak for yourself, Roberta.”)

It’s Just a Phase!!!

Let’s look at an example of phasing a child’s matches against those of their parents.

In our example, we have a non-endogamous female child (so they inherit an X chromosome from both parents) whose matches are being compared to her parents.

I’m utilizing files from Family Tree DNA. Ancestry does not provide segment data, so Ancestry files can’t be used.  At 23andMe, coordinating the security surrounding 3 individuals results and trying to make sure that the child and both parents all have access to the same individuals through sharing would be a nightmare, so the only vendor’s results you can reasonably utilize for phasing is Family Tree DNA.

You can download the matches for each person by chromosome segment by selecting the chromosome browser and the “Download All Matches to Excel (CSV Format)” at the top right above chromosome 1.

matches-chromosomr-browser

All segment matches 1cM and above will be downloaded into a CSV file, which I then save as an Excel spreadsheet.

I downloaded the files for both parents and the child. I deleted segments below 3cM.

About 75% of the rows in the files were segments below 3cM. In part, I deleted these segments due to the sheer size and the fact that the segment matching was a manual process.  In part, I did this because I already knew that segments below 3 cM weren’t terribly useful.

Rows Father Mother Child
Total 26,887 20,395 23,681
< 3 cM removed 20,461 15,025 17,784
Total Processed 6,426 5,370 5,897

Because I have the ability to phase these matches against both parents, I wanted to see how many of the matches in each category were indeed legitimate matches and how many were false positives, meaning identical by chance.

How does one go about doing that, exactly?

Downloading the Files

Let’s talk about how to make this process easy, at least as easy as possible.

Step one is downloading the chromosome browser matches for all 3 individuals, the child and both parents.

First, I downloaded the child’s chromosome browser match file and opened the spreadsheet.

Second, I downloaded the mother’s file, colored all of her rows pink, then appended the mother’s rows into the child’s spreadsheet.

Third, I did the same with the father’s file, coloring his rows blue.

After I had all three files in one spreadsheet, I sorted the columns by segment size and removed the segments below 3cM.

Next, I sorted the remaining items on the spreadsheet, in order, by column, as follows:

  • End
  • Start
  • Chromosome
  • Matchname

matches-both-parents

My resulting spreadsheet looked like this.  Sorting in the order prescribed provides you with the matches to each person in chromosome and segment order, facilitating easy (OK, relatively easy) visual comparison for matching segments.

I then colored all of the child’s NON-matching segments green so that I could see (and eventually filter the matchname column by) the green color indicating that they were NOT matches.  Do this only for the child, or the white (non-colored) rows.  The child’s matchname only gets colored green if there is no corresponding match to a parent for that same person on that same chromosome segment.

matches-child-some-parents

All of the child’s matches that DON’T have a corresponding parent match in pink or blue for that same person on that same segment will be colored green.  I’ve boxed the matches so you can see that they do match, and that they aren’t colored green.

In the above example, Donald and Gaff don’t match either parent, so they are all green.  Mess does match the father on some segments, so those segments are boxed, but the rest of Mess doesn’t match a parent, so is colored green.  Sarah doesn’t match any parent, so she is entirely green.

Yes, you do manually have to go through every row on this combined spreadsheet.

If you’re going to phase your matches against your parent or parents, you’ll want to know what to expect.  Just because you’ve seen one match does not mean you’ve seen them all.

What is a Match?

So, finally, the answer to the original question, “What is a Match?”  Yes, I know this was the long way around the block.

In the exercise above, we weren’t evaluating matches, we were just determining whether or not the child’s match also matched the parent on the same segment, but sometimes it’s not clear whether they do or do not match.

matches-child-mess

In the case of the second match with Mess on chromosome 11, above, the starting and ending locations, and the number of cM and segments are exactly the same, so it’s easy to determine that Mess matches both the child and the father on chromosome 11. All matches aren’t so straightforward.

Typical Match

matches-typical

This looks like your typical match for one person, in this case, Cecelia.  The child (white rows) matches Cecelia on three segments that don’t also match the child’s mother (pink rows.)  Those non-matching child’s rows are colored green in the match column.  The child matches Cecelia on two segments that also match the mother, on chromosome 20 and the X chromosome.  Those matching segments are boxed in black.

The segments in both of these matches have exact overlaps, meaning they start and end in exactly the same location, but that’s not always the case.

And for the record, matches that begin and/or end in the same location are NOT more likely to be legitimate matches than those that start and end in different locations.  Vendors use small buckets for matching, and if you fall into any part of the bucket, even if your match doesn’t entirely fill the bucket, the bucket is considered occupied.  So what you’re seeing are the “fuzzy” bucket boundaries.

(Over)Hanging Chad

matches-overhanging

In this case, Chad’s match overhangs on each end.  You can see that Chad’s match to the child begins at 52,722,923 before the mother’s match at 53,176,407.

At the end location, the child’s matching segment also extends beyond the mother’s, meaning the child matches Chad on a longer segment than the mother.  This means that the segment sections before 53,176,407 and after 61,495,890 are false negative matches, because Chad does not also match the child’s mother of these portions of the segment.

This segment still counts as a match though, because on the majority of the segment, Chad does match both the child and the mother.

Nested Match

matches-nested

This example shows a nested match, where the parent’s match to Randy begins before the child’s and ends after the child’s, meaning that the child’s matching DNA segment to Randy is entirely nested within the mother’s.  In other words, pieces got shaved off of both ends of this segment when the child was inheriting from her mother.

No Common Matches

matches-no-common

Sometimes, the child and the parent will both match the same person, but there are no common segments.  Don’t read more into this than what it is.  The child’s matches to Mary are false matches.  We have no way to judge the mother’s matches, except for segment size probability, which we’ll discuss shortly.

Look Ma, No Parents

matches-no-parents

In this case, the child matches Don on 5 segments, including a reasonably large segment on chromosome 9, but there are no matches between Don and either parent.  I went back and looked at this to be sure I hadn’t missed something.

This could, possibly, be an instance of an unseen a false negative, meaning perhaps there is a read issue in the parent’s file on chromosome 9, precluding a match.  However, in this case, since Family Tree DNA does report matches down to 1cM, it would have to be an awfully large read error for that to occur.  Family Tree DNA does have quality control standards in place and each file must pass the quality threshold to be put into the matching data base.  So, in this case, I doubt that the problem is a false negative.

Just because there are multiple IBC matches to Don doesn’t mean any of those are incorrect.  It’s just the way that the DNA is inherited and it’s why this type of a match is called identical by chance – the key word being chance.

Split Match

matches-split

This split match is very interesting.  If you look closely, you’ll notice that Diane matches Mom on the entire segment on chromosome 12, but the child’s match is broken into two.  However, the number of SNPs adds up to the same, and the number of cM is close.  This suggests that there is a read error in the child’s file forcing the child’s match to Diane into two pieces.

If the segments broken apart were smaller, under the match threshold, and there were no other higher matches on other segments, this match would not be shown and would fall into the False Negative category.  However, since that’s not the case, it’s a legitimate match and just falls into the “interesting” category.

The Deceptive Match

matches-surname

Don’t be fooled by seeing a family name in the match column and deciding it’s a legitimate match.  Harrold is a family surname and Mr. Harrold does not match either of the child’s parents, on any segment.  So not a legitimate match, no matter how much you want it to be!

Suspicious Match – Probably not Real

matches-suspicious

This technically is a match, because part of the DNA that Daryl matches between Mom and the child does overlap, from 111,236,840 to 113,275,838.  However, if you look at the entire match, you’ll notice that not a lot of that segment overlaps, and the number of cMs is already low in the child’s match.  There is no way to calculate the number of cMs and SNPs in the overlapping part of the segment, but suffice it to say that it’s smaller, and probably substantially smaller, than the 3.32 total match for the child.

It’s up to you whether you actually count this as a match or not.  I just hope this isn’t one of those matches you REALLY need.  However, in this case, the Mom’s match at 15.46 cM is 99% likely to be a legitimate match, so you really don’t need the child’s match at all!!!

So, Judge Judy, What’s the Verdict?

How did our parental phasing turn out?  What did we learn?  How many segments matched both the child and a parent, and how many were false matches?

In each cM Size category below, I’ve included the total number of child’s match rows found in that category, the number of parent/child matches, the percent of parent/child matches, the number of matches to the child that did NOT match the parent, and the percent of non-matches. A non-match means a false match.

So, what the verdict?

matches-parent-child-phased-segment-match-chart

It’s interesting to note that we just approach the 50% mark for phased matches in the 7-7.99 cM bracket.

The bracket just beneath that, 6-6.99 shows only a 30% parent/child match rate, as does 5-5.99.  At 3 cM and 4 cM few matches phase to the parents, but some do, and could potentially be useful in groups of people descended from a known common ancestor and in conjunction with larger matches on other segments. Certainly segments at 3 cM and 4 cM alone aren’t very reliable or useful, but that doesn’t mean they couldn’t potentially be used in other contexts, nor are they always wrong. The smaller the segment, the less confidence we can have based on that segment alone, at least below 9-15cM.

Above the 50% match level, we quickly reach the 90th percentile in the 9-9.99 cM bracket, and above 10 cM, we’re virtually assured of a phased match, but not quite 100% of the time.

It isn’t until we reach the 16cM category that we actually reach the 100% bracket, and there is still an outlier found in the 18-18.99 cM group.

I went back and checked all of the 10 cM and over non-matches to verify that I had not made an error.  If I made errors, they were likely counting too many as NON-matches, and not the reverse, meaning I failed to visually identify matches.  However, with almost 6000 spreadsheet rows for the child, a few errors wouldn’t affect the totals significantly or even noticeably.

I hope that other people in non-endogamous populations will do the same type of double parent phasing and report on their results in the same type of format.  This experiment took about 2 days.

Furthermore, I would love to see this same type of experiment for endogamous families as well.

Summary

If you can phase your matches to either or both of your parents, absolutely, do.  This this exercise shows why, if you have only one parent to match against, you can’t just assume that anyone who doesn’t match you on your one parent’s side automatically matches you from the other parent. At least, not below about 15 cM.

Whether you can phase against your parent or not, this exercise should help you analyze your segment matches with an eye towards determining whether or not they are valid, and what different kinds of matches mean to your genealogy.

If nothing else, at least we can quantify the relatively likelihood, based on the size of the matching segment, in a non-endogamous population, a match would match a parent, if we had one to match against, meaning that they are a legitimate match.  Did you get all that?

In a nutshell, we can look at the Parent/Child Phased Match Chart produced by this exercise and say that our 8.5 cM match has about a 66% chance of being a legitimate match, and our 10.5 cM match has a 95% change of being a legitimate match.

You’re welcome.

Enjoy!!

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

2016 Genetic Genealogy Retrospective

In past years, I’ve written a “best of” article about genetic genealogy happenings throughout the year. For several years, the genetic genealogy industry was relatively new, and there were lots of new tools being announced by the testing vendors and others as well.

This year is a bit different. I’ve noticed a leveling off – there have been very few announcements of new tools by vendors, with only a few exceptions.  I think genetic genealogy is maturing and has perhaps begun a new chapter.  Let’s take a look.

Vendors

Family Tree DNA

Family Tree DNA leads the pack this year with their new Phased Family Matches which utilizes close relatives, up to third cousins, to assign your matches to either maternal or paternal buckets, or both if the individual is related on both sides of your tree.

Both Buckets

They are the first and remain the only vendor to offer this kind of feature.

Phased FF2

Phased Family Matching is extremely useful in terms of identifying which side of your family tree your matches are from. This tool, in addition to Family Tree DNA’s nine other autosomal tools helps identify common ancestors by showing you who is related to whom.

Family Tree DNA has also added other features such as a revamped tree with the ability to connect DNA results to family members.  DNA results connected to the tree is the foundation for the new Phased Family Matching.

The new Ancient Origins feature, released in November, was developed collaboratively with Dr. Michael Hammer at the University of Arizona Hammer Lab.

Ancient European Origins is based on the full genome sequencing work now being performed in the academic realm on ancient remains. These European results fall into three primary groups of categories based on age and culture.  Customer’s DNA is compared to the ancient remains to determine how much of the customer’s European DNA came from which group.  This exciting new feature allows us to understand more about our ancestors, long before the advent of surnames and paper or parchment records. Ancient DNA is redefining what we know, or thought we knew, about population migration.

2016-ancient-origins

You can view Dr. Hammer’s presentation given at the Family Tree DNA Conference in conjunction with the announcement of the new Ancient Origins feature here.

Family Tree DNA maintains its leadership position among the three primary vendors relative to Y DNA testing, mtDNA testing and autosomal tools.

Ancestry

In May of 2016, Ancestry changed the chip utilized by their tests, removing about 300,000 of their previous 682,000 SNPs and replacing them with medically optimized SNPs. The rather immediate effect was that due to the chip incompatibility, Ancestry V2 test files created on the new chip cannot be uploaded to Family Tree DNA, but they can be uploaded to GedMatch.  Family Tree DNA is working on a resolution to this problem.

I tested on the new Ancestry V2 chip, and while there is a difference in how much matching DNA I share with my matches as compared to the V1 chip, it’s not as pronounced as I expected. There is no need for people who tested on the earlier chip to retest.

Unfortunately, Ancestry has remained steadfast in their refusal to implement a chromosome browser, instead focusing on sales by advertising the ethnicity “self-discovery” aspect of DNA testing.

Ancestry does have the largest autosomal data base but many people tested only for ethnicity, don’t have trees or have private trees.  In my case, about half of my matches fall into that category.

Ancestry maintains its leadership position relative to DNA tree matching, known as a Shared Ancestor Hint, identifying common ancestors in the trees of people whose DNA matches.

ancestry-common-ancestors

23andMe

23andMe struggled for most of the year to meet a November 2015 deadline, which is now more than a year past, to transition its customers to the 23andMe “New Experience” which includes a new customer interface. I was finally transitioned in September 2016, and the experience has been very frustrating and extremely disappointing, and that’s putting it mildly. Some customers, specifically international customers, are still not transitioned, nor is it clear if or when they will be.

I tested on the 23andMe older V3 chip as well as their newer V4 chip. After my transition to the New Experience, I compared the results of the two tests. The new security rules incorporated into the New Experience meant that I was only able to view about 25% of my matches (400 of 1651(V3) matches or 1700 (V4) matches). 23andMe has, in essence, relegated themselves into the non-player status for genetic genealogy, except perhaps for adoptees who need to swim in every pool – but only then as a last place candidate. And those adoptees had better pray that if they have a close match, that match falls into the 25% of their matches that are useful.

In December, 23andMe began providing segment information for ethnicity segments, except the parental phasing portion does not function accurately, calling into question the overall accuracy of the 23andme ethnicity information. Ironically, up until now, while 23andMe slipped in every other area, they had been viewed at the best, meaning most accurate, in terms of ethnicity estimates.

New Kids on the Block

MyHeritage

In May of 2016, MyHeritage began encouraging people who have tested at other vendors to upload their results. I was initially very hesitant, because aside from GedMatch that has a plethora of genetic genealogy tools, I have seen no benefit to the participant to upload their DNA anyplace, other than Family Tree DNA (available for V3 23andMe and V1 Ancestry only).

Any serious genealogist is going to test at least at Family Tree DNA and Ancestry, both, and upload to GedMatch. My Heritage was “just another upload site” with no tools, not even matching initially.

However, in September, MyHeritage implemented matching, although they have had a series of what I hope are “startup issues,” with numerous invalid matches, apparently resulting from their usage of imputation.

Imputation is when a vendor infers what they think your DNA will look like in regions where other vendors test, and your vendor doesn’t. The best example would be the 300,000 or so Ancestry locations that are unique to the Ancestry V2 chip. Imputation would result in a vendor “inferring” or imputing your results for these 300,000 locations based on…well, we don’t exactly know based on what. But we do know it cannot be accurate.  It’s not your DNA.

In the midst of this, in October, 23andMe announced on their forum that they had severed a previous business relationship with MyHeritage where 23andMe allowed customers to link to MyHeritage trees in lieu of having customer trees directly on the 23andMe site.  This approach had been problematic because customers are only allowed 250 individuals in their tree for free, and anything above that requires a MyHeritage subscription.  Currently 23andMe has no tree capability.

It appears that MyHeritage refined their DNA matching routines at least somewhat, because many of the bogus matches were gone in November when they announced that their beta was complete and that they were going to sell their own autosomal DNA tests. However, matching issues have not disappeared or been entirely resolved.

While Family Tree DNA’s lab will be processing the MyHeritage autosomal tests, the results will NOT be automatically placed in the Family Tree DNA data base.

MyHeritage will be doing their own matching within their own database. There are no comparison tools, tree matching or ethnicity estimates today, but My Heritage says they will develop a chromosome browser and ethnicity estimates. However, it is NOT clear whether these will be available for free to individuals who have transferred their results into MyHeritage or if they will only be available to people who tested through MyHeritage.

2016-myheritage-matches

For the record, I have 28 matches today at MyHeritage.

2016-myheritage-second-match

I found that my second closest match at MyHeritage is also at Ancestry.

2016-myheritage-at-ancestry

At MyHeritage, they report that I match this individual on a total of 64.1 cM, across 7 segments, with the largest segment being 14.9 cM.

Ancestry reports this same match at 8.3 cM total across 1 segment, which of course means that the longest segment is also 8.3 cM.

Ancestry estimates the relationship as 5th to 8th cousin, and MyHeritage estimates it as 2nd to 4th.

While I think Ancestry’s Timber strips out too much DNA, there is clearly a HUGE difference in the reported results and the majority of this issue likely lies with the MyHeritage DNA imputation and matching routines.

I uploaded my Family Tree DNA autosomal file to MyHeritage, so MyHeritage is imputing at least 300,000 SNPs for me – almost half of the SNPs needed to match to Ancestry files.  They are probably imputing that many for my match’s file too, so that we have an equal number of SNPs for comparison.  Combined, this would mean that my match and I are comparing 382,000 actual SNPs that we both tested, and roughly 600,000 SNPs that we did not test and were imputed.  No wonder the MyHeritage numbers are so “off.”

My Heritage has a long way to go before they are a real player in this arena. However, My Heritage has potential, as they have a large subscriber base in Europe, where we desperately need additional testers – so I’m hopeful that they can attract additional genealogists that are willing to test from areas that are under-represented to date.

My Heritage got off to a bit of a rocky start by requiring users to relinquish the rights to their DNA, but then changed their terms in May, according to Judy Russell’s blog.

All vendors can change their terms at any time, in a positive or negative direction, so I would strongly encourage all individuals considering utilizing any testing company or upload service to closely read all the legal language, including Terms and Conditions and any links found in the Terms and Conditions.

Please note that MyHeritage is a subscription genealogy site, similar to Ancestry.  MyHeritage also owns Geni.com.  One site, MyHeritage, allows individual trees and the other, Geni, embraces the “one world tree” model.  For a comparison of the two, check out Judy Russell’s articles, here and here.  Geni has also embraced DNA by allowing uploads from Family Tree DNA of Y, mitochondrial and autosomal, but the benefits and possible benefits are much less clear.

If the MyHeritage story sounds like a confusing soap opera, it is.  Let’s hope that 2017 brings both clarity and improvements.

Living DNA

Living DNA is a company out of the British Isles with a new test that purports to provide you with a breakdown of your ethnicity and the locations of your ancestral lines within 21 regions in the British Isles.  Truthfully, I’m very skeptical, but open minded.

They have had my kit for several weeks now, and testing has yet to begin.  I’ll write about the results when I receive them.  So far, I don’t know of anyone who has received results.

2016-living-dna

Genos

I debated whether or not I should include Genos, because they are not a test for genealogy and are medically focused. However, I am including them because they have launched a new model for genetic testing wherein your full exome is tested, you receive the results along with information on the SNPs where mutations are found. You can then choose to be involved with research programs in the future, if you wish, or not.

That’s a vastly different model that the current approach taken by 23andMe and Ancestry where you relinquish your rights to the sale of your DNA when you sign up to test.  I like this new approach with complete transparency, allowing the customer to decide the fate of their DNA. I wrote about the Genos test and the results, here.

Third Parties

Individuals sometimes create and introduce new tools to assist genealogists with genetic genealogy and analysis.

I have covered these extensively over the years.

GedMatch, WikiTree, DNAGedcom.com and Kitty Cooper’s tools remain my favorites.

I love Kitty’s Ancestor Chromosome Mapper which maps the segments identified with your ancestors on your chromosomes. I just love seeing which ancestors’ DNA I carry on which chromosomes.  Somehow, this makes me feel closer to them.  They’re not really gone, because they still exist in me and other descendants as well.

Roberta's ancestor map2

In order to use Kitty’s tool, you’ll have to have mapped at least some of your autosomal DNA to ancestors.

The Autosomal DNA Segment Analyzer written by Don Worth and available at DNAGedcom is still one of my favorite tools for quick, visual and easy to understand segment matching results.

ADSA Crumley cluster

GedMatch has offered a triangulation tool for some time now, but recently introduced a new Triangulation Groups tool.

2016-gedmatch-triangulation-groups

I have not utilized this tool extensively but it looks very interesting. Unfortunately, there is no explanation or help function available for what this tool is displaying or how to understand and interpret the results. Hopefully, that will be added soon, as I think it would be possible to misinterpret the output without educational material.

GedMatch also introduced their “Evil Twin” tool, which made me laugh when I saw the name.  Using parental phasing, you can phase your DNA to your parent or parents at GedMatch, creating kits that only have your mother’s half of your DNA, or your father’s half.  These phased kits allow you to see your matches that come from that parent, only.  However, the “Evil Twin” feature creates a kit made up of the DNA that you DIDN’T receive from that parent – so in essence it’s your other half, your evil twin – you know, that person who got blamed for everything you “didn’t do.”  In any case, this allows you to see the matches to the other half of your parent’s DNA that do not show up as your matches.

Truthfully, the Evil Twin tool is interesting, but since you have to have that parent’s DNA to phase against in the first place, it’s just as easy to look at your parent’s matches – at least for me.

Others offer unique tools that are a bit different.

DNAadoption.com offers tools, search and research techniques, especially for adoptees and those looking to identify a parent or grandparents, but perhaps even more important, they offer genetic genealogy classes including basic and introductory.

I send all adoptees in their direction, but I encourage everyone to utilize their classes.

WikiTree has continued to develop and enhance their DNA offerings.  While WikiTree is not a testing service nor do they offer autosomal data tools like Family Tree DNA and GedMatch, they do allow individuals to discover whether anyone in their ancestral line has tested their Y, mitochondrial or autosomal DNA.

Specifically, you can identify the haplogroup of any male or female ancestor if another individual from that direct lineage has tested and provided that information for that ancestor on WikiTree.  While I am generally not a fan of the “one world tree” types of implementations, I am a fan of WikiTree because of their far-sighted DNA comparisons, the fact that they actively engage their customers, they listen and they expend a significant amount of effort making sure they “get it right,” relative to DNA. Check out WikiTree’s article,  Putting DNA Results Into Action, for how to utilize their DNA Features.

2016-wikitree-peter-roberts

Thanks particularly to Chris Whitten at WikiTree and Peter Roberts for their tireless efforts.  WikiTree is the only vendor to offer the ability to discover the Y and mtDNA haplogroups of ancestors by searching trees.

All of the people creating the tools mentioned above, to the best of my knowledge, are primarily volunteers, although GedMatch does charge a small subscription service for their high end tools, including the triangulation and evil twin tools.  DNAGedcom does as well.  Wikitree generates some revenue for the site through ads on pages of non-members. DNAAdoption charges nominally for classes but they do have need-based scholarships. Kitty has a donation link on her website and all of these folks would gladly accept donations, I’m sure.  Websites and everything that goes along with them aren’t free.  Donations are a nice way to say thank you.

What Defined 2016

I have noticed two trends in the genetic genealogy industry in 2016, and they are intertwined – ethnicity and education.

First, there is an avalanche of new testers, many of whom are not genetic genealogists.

Why would one test if they weren’t a genetic genealogist?

The answer is simple…

Ethnicity.

Or more specifically, the targeted marketing of ethnicity.  Ethnicity testing looks like an easy, quick answer to a basic human question, and it sells kits.

Ethnicity

“Kim just wanted to know who she was.”

I have to tell you, these commercials absolutely make me CRINGE.

Yes, they do bring additional testers into the community, BUT carrying significantly misset expectations. If you’re wondering about WHY I would suggest that ethnicity results really cannot tell you “who you are,” check out this article about ethnicity estimates.

And yes, that’s what they are, estimates – very interesting estimates, but estimates just the same.  Estimates that provide important and valid hints and clues, but not definitive answers.

ESTIMATES.

Nothing more.

Estimates based on proprietary vendor algorithms that tend to be fairly accurate at the continental level, and not so much within continents – in particular, not terribly accurate within Europe. Not all of this can be laid a the vendor’s feet.  For example, DNA testing is illegal in France.  Not to mention, genetic genealogy and population genetics is still a new and emerging field.  We’re on the frontier, folks.

The ethnicity results one receives from the 3 major vendors (Ancestry, Family Tree DNA and 23andMe) and the various tools at GedMatch don’t and won’t agree – because they use different reference populations, different matching routines, etc.  Not to mention people and populations move around and have moved around.

The next thing that happens, after these people receive their results, is that we find them on the Facebook groups asking questions like, “Why doesn’t my full blooded Native American grandmother show up?” and “I just got my Ancestry results back. What do I do?”  They mean that question quite literally.

I’m not making fun of these people, or light of the situation. Their level of frustration and confusion is evident. I feel sorry for them…but the genetic genealogy community and the rest of us are left with applying ointment and Band-Aids.  Truthfully, we’re out-numbered.

Because of the expectations, people who test today don’t realize that genetic testing is a TOOL, it’s not an ANSWER. It’s only part of the story. Oh, and did I mention, ethnicity is only an ESTIMATE!!!

But an estimate isn’t what these folks are expecting. They are expecting “the answer,” their own personal answer, which is very, very unfortunate, because eventually they are either unhappy or blissfully unaware.

Many become unhappy because they perceive the results to be in error without understanding anything about the technology or what information can reasonably be delivered, or they swallow “the answer” lock stock and barrel, again, without understanding anything about the technology.

Ethnicity is fun, it isn’t “bad” but the results need to be evaluated in context with other information, such as Y and mitochondrial haplogroups, genealogical records and ethnicity results from the other major testing companies.

Fortunately, we can recruit some of the ethnicity testers to become genealogists, but that requires education and encouragement. Let’s hope that those DNA ethnicity results light the fires of curiosity and that we can fan those flames!

Education

The genetic genealogy community desperately needs educational resources, in part as a result of the avalanche of new testers – approximately 1 million a year, and that estimate may be low. Thankfully, we do have several education options – but we can always use more.  Unfortunately, the learning curve is rather steep.

My blog offers just shy of 800 articles, all key word searchable, but one has to first find the blog and want to search and learn, as opposed to being handed “the answer.”

Of course, the “Help” link is always a good place to start as are these articles, DNA Testing for Genealogy 101 and Autosomal DNA Testing 101.  These two articles should be “must reads” for everyone who has DNA tested, or wants to, for that matter.  Tips and Tricks for Contact Success is another article that is immensely helpful to people just beginning to reach out.

In order to address the need for basic understanding of autosomal DNA principles, tools and how to utilize them, I began the “Concepts” series in February 2016. To date I offer the following 15 articles about genetic genealogy concepts. To be clear, DNA testing is only the genetic part of genetic genealogy, the genealogical research part being the second half of the equation.

My blog isn’t the only resource of course.

Kelly Wheaton provides 19 free lessons in her Beginners Guide to Genetic Genealogy.

Other blogs I highly recommend include:

Excellent books in print that should be in every genetic genealogist’s library:

And of course, the ISOGG Wiki.

Online Conference Resources

The good news and bad news is that I’m constantly seeing a genetic genealogy seminar, webinar or symposium hosted by a group someplace that is online, and often free. When I see names I recognize as being reputable, I am delighted that there is so much available to people who want to learn.

And for the record, I think that includes everyone. Even professional genetic genealogists watch these sessions, because you just never know what wonderful tidbit you’re going to pick up.  Learning, in this fast moving field, is an everyday event.

The bad news is that I can’t keep track of everything available, so I don’t mean to slight any resource.  Please feel free to post additional resources in the comments.

You would be hard pressed to find any genealogy conference, anyplace, today that didn’t include at least a few sessions about genetic genealogy. However, genetic genealogy has come of age and has its own dedicated conferences.

Dr. Maurice Gleeson, the gentleman who coordinates Genetic Genealogy Ireland films the sessions at the conference and then makes them available, for free, on YouTube. This link provides a list of the various sessions from 2016 and past years as well. Well worth your time!  A big thank you to Maurice!!!

The 19 video series from the I4GG Conference this fall is now available for $99. This series is an excellent opportunity for genetic genealogy education.

As always, I encourage project administrators to attend the Family Tree DNA International Conference on Genetic Genealogy. The sessions are not filmed, but the slides are made available after the conference, courtesy of the presenters and Family Tree DNA. You can view the presentations from 2015 and 2016 at this link.

Jennifer Zinck attended the conference and published her excellent notes here and here, if you want to read what she had to say about the sessions she attended. Thankfully, she can type much faster and more accurately than I can! Thank you so much Jennifer.

If you’d like to read about the unique lifetime achievement awards presented at the conference this year to Bennett Greenspan and Max Blankfeld, the founders of Family Tree DNA, click here. They were quite surprised!  This article also documents the history of genetic genealogy from the beginning – a walk down memory lane.

The 13th annual Family Tree DNA conference which will be held November 10-12, 2017 at the Hyatt Regency North Houston. Registration is always limited due to facility size, so mark your calendars now, watch for the announcement and be sure to register in time.

Summary

2016 has been an extremely busy year. I think my blog has had more views, more comments and by far, more questions, than ever before.

I’ve noticed that the membership in the ISOGG Facebook group, dedicated to genetic genealogy, has increased by about 50% in the past year, from roughly 8,000 members to just under 12,000. Other social media groups have been formed as well, some focused on specific aspects of genetic genealogy, such as specific surnames, adoption search, Native American or African American heritage and research.

The genetic aspect of genealogy has become “normal” today, with most genealogists not only accepting DNA testing, but embracing the various tools and what they can do for us in terms of understanding our ancestors, tracking them, and verifying that they are indeed who we think they are.

I may have to explain the three basic kinds of DNA testing and how they are used today, but no longer do I have to explain THAT DNA testing for genealogy exists and that it’s legitimate.

I hope that each of us can become an ambassador for genetic genealogy, encouraging others to test, with appropriate expectations, and helping to educate, enlighten and encourage. After all, the more people who test and are excited about the results, the better for everyone else.

Genetic genealogy is and can only be a collaborative team sport.

Here’s wishing you many new cousins and discoveries in 2017.

Happy New Year!!!

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23andMe’s New Ancestry Composition (Ethnicity) Chromosome Segments

I was excited to see 23andMe’s latest feature that provides customers with Ancestry Composition (ethnicity) chromosome segment information by location.  This means I can compare my triangulation groups to these segments and potentially identify which ancestor’s DNA that I inherited carry which ethnicity – right?? Another potential way to help discern whether I should ask Santa for lederhosen or a kilt?

Not so fast…

Theoretically yes, but as it turns out, after working with the results, this tool doesn’t fulfill it’s potential and has some very significant issues, or maybe this new tool just unveiled underlying issues.

Rats, I guess Santa is off the hook.

Let’s take a look and step through the process.

Ancestry Composition Chromosome Painting

To see your Ancestry Composition ethnicity chromosome painting, sign into 23andMe, then go to the Reports tab at the top of your page and click on Ancestry. Please note that you can click on any of the graphics in this article to enlarge.

23andme-eth-seg-1

Then click on Ancestry Composition, which shows you the following:

23andme-eth-seg-2

Scrolling downs shows you your chromosomes, painted with your ethnicity. This isn’t new and it’s a great visual.

You may note that 23andMe paints both “sides” of each chromosome separately, the side you received from your mother and the side you received from your father. However, there is no way to determine which is which, and they are not necessarily the same side on each chromosome.

If one or both of your parents tested at 23andMe, you can connect your parents to your results and you can then see which ethnicity you received from which parent.

Let’s work through an example.

23andme-eth-seg-3

This person, we’ll call her Jasmine, received two segments of Native ancestry, one on chromsome 1 and one on chromosome 2, both on the first (top) strands or copies. She also received one segment of African on DNA strand (copy) 1 of chromsome 7.

Caveat

Words of warning.

JUST BECAUSE THESE ETNICITIES APPEAR ON THE SAME STRANDS OF DIFFERENT CHROMOSOMES, STRAND ONE IN THIS CASE, DOES NOT MEAN THEY ARE INHERITED FROM THE SAME PARENT.  

Each chromosome recombines separately and without a parent to compare to, there is no way to know which strand is mother’s or father’s on any chromsome. And figuring out which strand is which for one chromsome does NOT mean it’s the same for other chromsomes.

In fact, Jasmine’s mother has tested, and she has NO African on chromosome 7. However, Jasmine and her mother both have Native American on chromosomes 1 and 2 in the same location, so we know absolutely that Jasmine’s strand 1 on chromosome 7 is not from the same parent as strand 1 on chromosome 1 and 2, because Jasmine’s mother doesn’t have any African DNA in that location.

If you’re a seasoned 23andMe user, and you’re saying to yourself, “That’s not right, the chromosome sides should be aligned if a parent tests.”  You’re right, at least that’s what we’ve all thought.  Keep reading.

Let’s dig a bit further.

Connecting Up

23and Me encourages everyone to connect their parents, if your parents have tested.

Jasmine’s mother has tested and is connected to Jasmine at 23andMe.

23andme-eth-seg-4

Even though the button says “Connect Mother,” which makes it appear that Jasmine’s mother isn’t connected, she is. Clicking on Jasmine’s “Connect Mother” button shows the following:

23andme-eth-seg-5

Furthermore, if the parent isn’t connected, you don’t see any parental side ethnicity breakdown – and we clearly see those results for Jasmine.  Below is an example of the same page of someone whose parents aren’t connected – and you can see the verbiage at the bottom saying that a parent must be connected to see how much ancestry composition was inherited from each parent.

23andme-eth-seg-not-connect

If a child is connected to at least one parent, 23andMe, based on that parent’s test, tells the child which sides they inherited which pieces of their ethnicity from, shown for Jasmine, below.

23andme-eth-seg-6

In this case, the mother is connected to Jasmine and the father’s ethnicity results are imputed by subtracting the results where Jasmine matches her mother. The balance of Jasmine’s DNA ethnicity results that don’t match her mother in that location are clearly from her father.

23andMe may sort the results into the correct buckets, but they do not correctly rearrange the chromosome “copies” or “sides” on the chromosome browser display based on the parents’ DNA, as seen from the African example on chromosome 7. Either that, or the ethnicity phasing is inaccurate, or both.

You can see that 23andMe tells Jasmine that all of her Native is from her mother’s side, which is correct.

23andMe tells Jasmine that part of her North African and Sub-Saharan African are from her mother, but some North African is also from her father. You can see Jasmine’s African on her chromosome 7, below.

23andme-eth-seg-7

There is no African on Jasmine’s mother’s chromosome 7, below.

23andme-eth-seg-8

So if African exists on chromosome 7, it MUST come from Jasmine’s father’s side. Therefore, side one of chromosome 7 cannot be Jasmine’s mother’s side, because that’s where Jasmine’s African resides.

This indictes that either the results are incorrect, or the “sides” showing have not been corrected or realigned by 23andMe after parental ethnicity phasing, or both.

Here’s another example. Jasmine shows Middle East and North Africa on chromosomes 12 and 13 on sides one and two, respectively.

23andme-eth-seg-9

Jasmine’s mother shows Middle East and North Africa on chromosome 14, only, with none showing on chromosome 12 or 13.

23andme-eth-seg-10

Yet, 23andMe shows Jasmine receiving Middle East and North African DNA from her mother.

23andme-eth-seg-11

Jasmine is also shown as receiving Sub-Saharan African and West African from her mother, but Jasmine’s mother has no Sub-Saharan or West African, at all.

Interestingly, when you highlight both West African and Sub-Saharan African, shown below, it highlights the same segment of Jasmine’s DNA, so apparently these are not different categories, but subsets of each other, at least in this case, and reflect the same segment.

23andme-eth-seg-12

23andme-eth-seg-13

Jasmine’s mother shows this region of chromosome 7 to be “European” with no further breakdown.

Clearly Jasmine’s sides 1 and 2 have not been consistently assigned to her mother, because Jasmine’ African shows on both sides 1 and 2 of chromosomes 12 and 13 and Jasmine’s mother has no African on either on those chromosomes – so those segments should be assigned consistently to Jasmine’s father’s side, which, based on Jasmine’s match to her mother on chromosome 1, side 1 – Jasmine’s father’s “copy” should be Jasmine’s side 2.  This tool is not functioning correctly.

Jasmine’s father is deceased, so there is no way to test him.

The information provided by 23and Me contradicts itself.

Either the ethnicity assignment itself or the parental ethnicity phasing is inaccurate, or both. Additionally, we now know that the chromosome “sides,” meaning “copies” are inaccurately displayed, even when one parent’s DNA is available and connected, and the sides could and should be portrayed accurately.

This discrepancy has to be evident to 23andMe, if they are checking for consistency in assigning child to parent segments.  You can’t assign a child’s segment to a parent who doesn’t carry any of that ethnicity in a common location.  That situation should result in a big red neon sign flashing “STOP” in quality assurance.  Inaccurate results should never be delivered to testers, especially when there are easy ways to determine that something isn’t right.

The New Feature – Ethnicity Segments

Like I said, I was initially quite excited about this new feature, at least until I did the analysis. Now, I’m not excited at all, because if the results are flawed, so is the underlying segment data.

My original intention was to download the ethnicity segment information into my master spreadsheet so that I could potentially match the ethnicity segments against ancestors when I’ve identified an ancestral segment as belonging to a particular ancestral line.

This would have been an absolutely wonderful benefit.

Let’s walk though these steps so you can find your results and do your own analysis.

When you are on the Ancestry Composition page, you will be, by default, on the Summary page.

23andme-eth-seg-14

Click on the Scientific Details tab, at the top, and scroll down to the bottom of the page where you will see the following:

23andme-eth-seg-15

You will be able to select a confidence level, ranging from 50% to 90%, where 50% is speculative and 90% is the highest confidence. Hint – at the highest confidence level, many of the areas broken out in the speculative level are rolled up into general regions, like “European.”  Default is 50%.

23andme-eth-seg-16

Click on download raw data and you can then open or save a .csv file. I suggest then saving that file as an Excel file so you can do some comparisons without losing features like color.

In my case, I saved a 50% confidence file and a 90% confidence file to compare to each other.

I began my analysis with both strands of chromosome 1:

Strand 1 was easy.  (Click on graphic to enlarge.)

23andme-eth-seg-17

At the 50% confidence level, on the left, three segments are identified, but when you really look at the start and end positions, rows one and two overlap entirely. Looking back at the chromosome browser painting, this looks to be because that segment will show up in both of those categories, so this isn’t an either-or situation. Row 3 shows Scandinavian beginning at 79,380,466 and continuing through 230,560,900, which is a partial embedded segment of row 2.

At the 90% confidence level, on the right, above, this entire segment, meaning all of chromosome 1 on side 1, is simply called European.

You can see how this might get complex very quickly when trying to utilize this information in a Master DNA Spreadsheet with your matches, especially since individual segments can have 2 or 3 different labels.  However, I’d love to know where my mystery Scandinavian is coming from – assuming it’s real.

Now, let’s look at strand 2 of chromosome one. It’s a little more complex.

23andme-eth-seg-18

I’ve tried to color code identical, or partially-overlapping segments.

The red, green and apricot segments overlap or partially overlap at the 50% level, on the left, indicating that they show up in different categories.

The red segments are partially the same, with some overlapping, but are grouped differently within Europe.

The green Native/East Asian segments at the 90% level are interrupted by the blue unassigned segments in the middle of the green segments, while at the 50% confidence level, they remain contiguous.

All of the start and end segments change, even if the categories stay the same or generally the same. The grey example at the bottom is the easiest to see – the category changes to the more general “European” at the 90% level and the start segment is slightly different.

Jasmine and Her Mother

As one last example, let’s look at the segments at the 50% confidence level, which should be the least restrictive, that we were comparing when discussing Jasmine and her mother.

You can see, below, that Jasmine’s Native portion of chromosome 1 and 2 are either equal to or a subset of her mother’s Native portion, so these match accurately and are shown in green.

This tells us that Jasmine’s mother’s side of chromosomes 1 and 2 is Jasmine’s “copy 1” and given that we can identify Jasmine’s mother’s DNA, all of Jasmine’s “copy 1” should now be displayed as her mother’s DNA, but it isn’t.

23andme-eth-seg-19

On chromosomes 7 and 12, where Jasmine’s copy 1 shows African DNA, her mother has none. All African DNA segments are shown in red, above.

Furthermore, 23andMe attributes at least some portion of Jasmine’s African to Jasmine’s mother, but Jasmine’s mother’s only African DNA appears on chromosome 14, a location where Jasmine has none. There is no common African segment or segments between Jasmine and her mother, in spite of the fact that 23andMe indicates that Jasmine inherited part of her African DNA from her mother.  It’s true that Jasmine and her mother both carry African DNA, but not on any of the same segments, so Jasmine did not inherit her mother’s African DNA.  Jasmine’s African DNA had to have come from her father – and that’s evident if you compare Jasmine and her mother’s segment data.

Where Jasmine has African DNA segments, above, I’ve shown her mother’s corresponding DNA segments on both strands for comparison. I have not colored these segments. Conversely, where Jasmine’s mother has African, on chromosome 14, I have shown Jasmine’s corresponding DNA segments covering that segment.  There are no matches.

Clearly Jasmine did not inherit her African segments from her mother, or the segments have been incorrectly assigned as African or European, or multiple problems exist.

Summary

I initially thought the Ancestry Composition segments were a great addition to the genealogists toolset, but unfortunately, it has proven to be otherwise, highlighting deficiencies in more than one of the following area:

  • Potentially, the ancestry composition ethnicity breakdown itself.  Is the underlying ethnicity assignment incorrect?  In either case, that would not explain the balance of the issues we encountered.
  • The chromosome “sides” or “copy” shown after the parental phasing – in other words, the child’s chromosome copies can be assigned to a particular parent with either or both parents’ DNA. Therefore, after parental phasing, all of the same parent’s DNA should consistently be assigned to either copy 1 or copy 2 for the child on all of their chromosomes.  It isn’t.
  • The child’s ethnicity source (parent) assignment based on the parent’s or parents’ ethnicity assignment(s).  Hence, the African segment assignment issues above.
  • The ethnicity phasing itself.  The assigning of the source of Jasmine’s African DNA to her mother when they share no common African segments.  Clearly this is incorrect, calling into question the validity of the rest of the parental ethnicity phasing.

Unfortunately, we really don’t have adequate tools to determine exactly where the problem or problems lie, but problems clearly do exist. This is very disappointing.

As a result, I won’t be adding this information to my Master DNA spreadsheet, and I’m surely glad I took the time to do the analysis BEFORE I copied the segment data into my spreadsheet.  In my excitement, I almost skipped the analysis step, trusting that 23andMe had this right.

All ethnicity results need to be taken with a large grain of salt, especially at the intra-continent level, because the reference populations and technology just haven’t been perfected.  It’s very difficult to discern between countries and regions of Europe, for example.  I discussed this in the article, “Ethnicity Testing – A Conundrum.”

However, it appears that adding parental phasing on top means that instead of a grain of salt, we’re looking at the entire shaker, at least at 23andMe – even at the continent level – in this case, Africa, which should be easily discernable from European. Parental phasing by its very nature should be able to help refine our results, not make them less reliable.

Is this new segment information just showing us the problems with the original ethnicity information?  I hate to even think about this or ask these difficult questions, but we must, because testers often rely on minority (to them) ethnicity admixture information to help confirm the ethnicity of distant ancestors. Are the display tools or 23andMe’s programs not working correctly, or is there a deeper problem, or both?

I think I just received a big lump of coal, or maybe a chunk of salt, in my stocking for Christmas.

Bah, humbug.

______________________________________________________________

Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

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Genealogy Research

Concepts – Managing Autosomal DNA Matches – Step 2 – Updating Match Spreadsheets, Bucketed Family Finder Matches and Pileups

We’re going to do three things in this article.

  1. Updating Your DNA Master Spreadsheet With New Matches
  2. Labeling Known Pileup Areas
  3. Utilizing Phased Family Finder Matches

You must do item one above, before you can do item three…just in case you are thinking about taking a “shortcut” and jumping to three. Word to the wise. Don’t.

OK, let’s get started! I promise, after we get the housework done, you’ll have a LOT of fun! Well, fun for a genetic genealogist anyway!

Updating Your Chromosome Browser Spreadsheet

If you haven’t updated your chromosome browser spreadsheet at Family Tree DNA since you originally downloaded your matches, it’s time to do that. You need to do this update so that your DNA Master Spreadsheet is in sync with your current matches before you can add the Family Finder bucketed matches to your master spreadsheet. Just trust me on this and understand that I found out the hard way. You don’t have to traipse through that same mud puddle because I already did and I’m warning you not to.

Let’s get started updating our DNA Master spreadsheet with our latest matches.  It’s a multi-step process and you’re going to be working with three different files:

  • File 1 – Your DNA Master Matches spreadsheet that you have created. This is the file you will be updating with information from the other two files, below.
  • File 2 – A current download of all of your chromosome browser file matches.
  • File 3 – A current download of a list of your matches.

The steps you will take, are as follows:

  1. Download a new Chromosome Browser Spreadsheet, but DO NOT overwrite your existing DNA Master spreadsheet, or you’ll be swearing, guaranteed. This chromosome browser spreadsheet is downloaded from the Family Finder chromosome browser page. Label it with a date and save it as an Excel file.
  2. Download a new Matches spreadsheet. This spreadsheet is downloaded from the bottom of your matches page. Label it with the same date and save it as an Excel file too.
  3. Update your Master DNA Matches spreadsheet utilizing the instructions provided below.

If you need a refresher about downloading spreadsheet information from Family Tree DNA, click here.

Your Matches spreadsheet will include a column labeled “Match Date.”

concepts2-match-date

On your Matches spreadsheet, sort the Match Date column in reverse order (sort Z to A) and print the list of matches that occurred since your last update date – meaning the date you last updated your DNA Master Spreadsheet.

If you need a refresher about how to sort spreadsheets, click here.

concepts2-match-list

This list will be your “picklist” from the new chromosome browser match spreadsheet you downloaded. I removed the middle and last names the matches, above, to protect their privacy, but you’ll have their full name to work with.

After your spreadsheet is sorted by match date, with the most current date at the top, you’ll have a list of the most recent matches, meaning those that happened since your last file download/update. Remember, I told you to record on a secondary page in your DNA Master Spreadsheet the history of the file, including the date you do things? This is why.  You need to know when you last downloaded your matches so that you don’t duplicate existing matches in your spreadsheet.

Why don’t you just want to download a new spreadsheet and start over?

concepts2-headers

Remember the color coding and those pink columns we’ve been adding, at right, above, so you can indicate which side that match is from, if the segment is triangulated, how you are related, the most recent common ancestor, the ancestral line, and other notes? If you overwrite your current DNA Master spreadsheet, all of that research information will be gone and you’ll have to start over. So as inconvenient as it is, you’ll need to go to the trouble of adding only your new matches to your DNA Master spreadsheet and only add new matches.

Utilizing the new Chromosome Browser match spreadsheet, you are going to scroll down (or Ctl+F) and find the names of the people you want to add to your master spreadsheet. Those are the people on your Matches spreadsheet whose test date is since you last downloaded the chromosome browser information.

When you find the person’s name (Amy in this example) on the Chromosome Browser Match spreadsheet, highlight the cells and right click to copy the contents of those cells so that you can paste them at the bottom of your DNA Master Spreadsheet.

concepts2-pick-list

Next, open your Master DNA Spreadsheet, and right click to paste the cells at the very bottom of the spreadsheet, positioning the cursor in the first cell of the first row where you want to paste, shown below.

concepts2-paste

Then click on Paste to paste the cells.

concepts2-paste-position

Repeat this process for every new match, copy/pasting all of their information into your DNA Master Spreadsheet.  I try to remember to do this about once a month.

Housekeeping note – If you’re wondering why some graphics in this article are the spreadsheet itself, and some are pictures of my screen (taken with my handy iPhone,) like the example above, it’s because when you do a screen capture, the screen capture action removes the drop down box that I want you to see in the pictures above. Yes, I know these pictures aren’t wonderful – but they are sufficient for you to see what I’m doing and that’s the goal.

Combined Spreadsheets

In my case, if you recall, I have a combined master spreadsheet with my matches and my mother’s matches in one spreadsheet. You may have this same situation with parents and grandparents or your full siblings if your parents are missing.

You will need to repeat this process for each family member whose entire match list resides in your DNA Master spreadsheet.

I know, I groaned too. And just in case you’re wondering, I’ve commenced begging at Family Tree DNA for a download by date function – but apparently I did not commence begging soon enough, because as of the date of this article, it hasn’t happened yet – although I’m hopeful, very hopeful.

After your spreadsheet is updated, we have a short one-time housekeeping assignment, then we’ll move on to something much more fun.

Known Pileup Regions

I want you to add the following segments into your DNA Master spreadsheet. These are known pileup regions in the human genome, also known as excess IBD (identical by descent) regions. This means that you may well phase against your parents, but the match is not necessarily genealogical in nature, because many individuals match in these areas, by virtue of being human. Having said that, close relationships may match you in these regions. Hopefully they will also match you in other regions as well, because it’s very difficult to tell if matches in these regions are by virtue of descent genealogically or because so many people match in these regions by virtue of being human.

concepts2-known-pileup-regions

You can color code these rows in your spreadsheet so you will notice them.  If you do, be sure to use a color that you’re not using for something else.

I have used several sources for this information, including the ISOGG wiki phasing page and Sue Griffith’s great Genealogy Junkie blog article titled Chromosome Maps Showing Centromeres, Excess IBD Regions and HLA Region. The HLA region on chromosome 6 is the most pronounced. Tim Janzen states that he has seen as many as 2000 SNP segments in this region that are identical by population, or at least they do not appear to be identical by descent, meaning he cannot find the common ancestor. His personal HLA region boundaries are a bit larger too, from 25,000,000 to 35,000,000. Regardless of the exact boundaries that you use, be aware of this very “matchy” region when you are evaluating your matches.  This is exactly why you’re entering these into your DNA Master spreadsheet – so you don’t have to “remember.”.

By the way, Family Tree DNA and GedMatch use Build 36, but eventually they will move to Build 37 of the human genome, so you might as well enter this information now so it will be there when you need it. If your next question is about how that transition will be handled, the answer is that I don’t know, and we will deal with it at that time.

I do not enter the SNP poor regions, because Family Tree DNA does not utilize those regions at all, and they are the greyed out regions of your chromosome map, shown below.

concepts2-snp-poor-regions

On my own spreadsheet, I have a few other things too.

I have indicated chromosomal regions where I carry minority ancestry.  For both my mother and me, chromosome 2 has significant Native admixture.  This Native heritage is also confirmed by mitochondrial and Y DNA tests on relevant family members.

concepts2-native-segments

If you carry any Native American or other minority admixture, where minority is defined as not your majority ethnicity, as determined by any of the testing companies, you can utilize GedMatch ethnicity tools to isolate the segments where your specific admixture occurs. I described how to do this here as part of The Autosomal Me series. I would suggest that you use multiple tools and look for areas that consistently show with that same minority admixture in all or at least most of the tools. Note that some tools are focused towards a specific ethnicity and omit others, so avoid those tools if the ethnicity you seek is not in line with the goals of that specific tool.

Ok, now that our housekeeping is done, we can have fun.

Adding Phased Family Finder Matches to your Spreadsheet

I love the new Family Tree DNA phased Family Finder matches that assign maternal or paternal “sides” to matches based on your matches to either a parent or close relative. If you would like a refresher on parental phasing, click here.

We’re going to utilize that Match spreadsheet you just downloaded once again.

In this case, we’re going to do something a bit different.

This time, we’re going to sort by the last column, “Matching Bucket.” (Please note you can enlarge any image by clicking or double clicking on it.)

concepts2-match-bucket

When you’re done sorting the “Matching Bucket” column , you will have four groups of matches, as follows:

  • Both
  • Maternal
  • N/A
  • Paternal

I delete the N/A rows, which means “not applicable” – in other words, the match did not meet the criterial to be assigned to a “side.” You can read about the criteria for phased Family Finder matches here and here. If you don’t want to delete these rows, you can just ignore them.

The next thing I do is to add a column before the first column on the spreadsheet, so before “Full Name.”

In this case, you can highlight either the entire column or just the column heading, and right click to insert an entire column to the left.

concepts2-insert-column

If these are your matches, add your name in the “Who” column. If these are your parents’ or full siblings’ matches, add their names in this column. When you have a combined spreadsheet, it’s critical to know whose matches are whose.

Then select colors for the maternal, paternal and both buckets, and color the rows on your spreadsheet accordingly.

I use pink and blue, appropriately, but not exactly the same pink and blue I use for the mother and father spreadsheet rows in my DNA Master spreadsheet. I used a slightly darker pink and slightly darker blue so I can see the difference at a glance. The yellow, or gold in this case, indicates a match to both sides.

concepts2-bucket-colors

You’re only going to actually utilize the first two columns of information.

Highlight and copy the first two columns, without the header, as shown below.

concepts2-bucket-columns

Then open your master spreadsheet and paste this information at the very bottom of your spreadsheet in the first two columns.

concepts2-bucket-paste

After the paste, your spreadsheet will look like this.

concepts2-bucket-rows

Next, sort your spreadsheet by match name, this case, RVH is the match (white row).

concepts2-bucket-match-sort

Be still my heart. Look what happens. By color, you can see who matches you on which sides, for those who are assigned to parental buckets.  Now my white RVH match row is accompanied by a gold row as well telling me that RVH matches me on both my maternal and paternal sides.

Let’s look at another example. In the case of Cheryl, she is my mother’s first cousin. Since I have combined both my mother’s and my spreadsheets, you can see that Cheryl matches both me and my mother on chromosome 19 and 20 below. Mother’s match rows are pink and my rows are white.

concepts2-bucket-match-maternal

In this example, you can see that indeed, Cheryl is assigned on my maternal side by Family Tree DNA, based on the dark pink match row that we just added. Indeed, by looking at the spreadsheet itself, you can confirm that Cheryl is a match on my mother’s side. I am only showing chromosome 19 and 20 as examples, but we match on several different locations.

I don’t have as many paternal side matches, because my father is not in the system, but I do have several cousins to phase against.

concepts2-bucket-match-paternal

Here’s my cousin, Buster, assigned paternally, which is accurate. In Buster’s case, I already have him assigned on my Dad’s side, but if I hadn’t already made this assignment, I could make that with confidence now, based on Family Tree DNA’s assignment.  The blessing here is that the usefulness of Buster’s assignment paternally doesn’t end there, but his results, and mine, together will be used to assign other matches to buckets as well.  Cousin matching is the gift that keeps on giving.

Because my DNA Master spreadsheet includes my mother’s information as well, we need to add her phased Family Finder matches too.

Mother’s Family Finder Matches

Because I have my mother’s and my results combined into one DNA Master spreadsheet, I repeat the same process for my mother, except I type her name in the first column I added with the title of “Who.”

concepts2-mother

Continue with the same “Adding Phased Family Finder Matches” instructions above, and when you are finished, you will have a Master DNA Spreadsheet that includes your information, your parent’s information, and anyone who is phased for either of you maternally, paternally or to both sides will be noted in your spreadsheet by match and color coded as well.

Let’s take a look at cousin Cheryl’s matches to both mother and I on our spreadsheet now with our maternal and paternal buckets assigned.

concepts2-cheryl-to-mother

As you can see, my results are the white row, and my Family Finder phased matches indicate that Cheryl is a match on my mother’s side, which is accurate.

Looking at my mother, Barbara’s matches, the pink rows, and then at Barbara’s Family Finder phased match information, it shows us that Cheryl matches mother on the blue, or paternal side, which is also accurate, per the pedigree chart below.

Margaret Lentz chart

You can see that Barbara and Cheryl are in the same generation, first cousins, and Barbara matches Cheryl on her paternal line which is reflected in the Family Finder bucketing.

I have updated the “Side” column to reflect the Family Finder bucketing information, although in this case, I already had the sides assigned based on previous family knowledge.

concepts2-bucket-matching-blended

In this example of viewing my mother and my combined spreadsheet matches, you are seeing the following information:

  • Cheryl matches me – white rows
  • Cheryl matches me on my maternal side – dark pink row imported from Match spreadsheet
  • Cheryl matches mother (Barbara) – light pink rows
  • Cheryl matches mother on her father’s side – blue row imported from Match spreadsheet

I find this combined spreadsheet with the color coding very visual and easy to follow.  Better yet, when other people match mother, Cheryl and I on this same segment, they fall right into this grouping on my DNA Master spreadsheet, so the relationship is impossible to miss.  That’s the beauty of a combined spreadsheet.

You can do a combined spreadsheet with individuals whose DNA is “yours” and they don’t share DNA with anyone that you don’t. Those individuals would be:

  • Either or both parents
  • Grandparents
  • Aunts and Uncles
  • Full siblings
  • Great-aunts and great-uncles

Why not half siblings or half aunts-uncles? Those people have DNA from someone who is not your ancestor. In other words, your half siblings have the DNA from only one of your parents, and you don’t want their matches from their other parent in your spreadsheet. You only want matches that positively descend from your ancestors.

While your grandparents, great-aunts, great-uncles, parents, aunts and uncles will have matches that you don’t, those matches may be critically important to you, because they have DNA from your ancestors that you didn’t inherit. So your combined DNA Master spreadsheet represents your DNA and the DNA of your ancestors found in your relatives who descend directly ONLY from your ancestors. Those relatives have DNA from your ancestors that has washed out by the time it gets to you.

Why can’t your cousins be included in your DNA Master spreadsheet?

I want you to take a minute and think about the answer to this question.

Thinking…..thinking….thinking…. (can you hear the Jeopardy music?)

And the answer is….

If you answered, “Because my aunt or uncle married someone with whom they had children, so my cousins have DNA that is not from an ancestor of mine,” you would be exactly right!!!

The great news is that between a combined spreadsheet and the new Family Finder bucketed matches, you can determine a huge amount about your matches.

After discovering which matches are bucketed, you can then use the other tools at Family Tree DNA, like “in common with” to see who else matches you and your match. The difference between bucketing and ICW is that bucketing means that you match that person (and one of your proven relatives who has DNA tested) on the same segment(s) above the 9cM bucketing threshold.  You can still match on the same segments, but not be reported as a bucketed match because the segments fall below the threshold.  “In common with” means that you both match someone else, but not necessarily on the same segments.

Here’s a nice article about utilizing the 9 tools provided by Family Tree DNA for autosomal matching.

The Beauty of the Beast

The absolutely wonderful aspect of phased Family Finder Matching is that while you do need to know some third cousins or closer, and the more the better, who have DNA tested, you do NOT need access to their family information, their tree or the DNA of your matches. If your matches provide that information, that’s wonderful, but your DNA plus that of your known relatives linked to your tree is doing the heavy lifting for you.

How well does this really work? Let’s take a look and see.

On the chart below, I’ve “bucketed” my information (pardon the pun.) Keep in mind that I do have my mother’s autosomal DNA, but not my fathers. His side is represented by 8 more distant relatives, the closest of which are my half-sister’s granddaughter and my father’s brother’s granddaughter – both of which are the genetic equivalent of 1st cousins once removed. My mother’s side is represented by mother and two first cousins.

Total Matches Maternal Side Bucket Paternal Side Bucket Both Sides Bucket Percent Assigned
Mother 865 13 106 2 14
Me 1585 356 361 3 23

Mother has the above 106 paternal bucketed matches without me doing anything at all except linking the DNA tests of mother to her two first cousins in her tree.  In my case, the combination of mother’s DNA and her two first cousins generated 356 maternal side bucketed matches, just by linking mother and her two first cousins to my tree.

concepts2-tree

Mother does have one third cousin on her mother’s side who generated 13 maternal bucketed matches.  So, while third cousins are distant, they can be very useful in terms of bucketed “sides” to matches.

It’s ironic that even though I have my mother’s DNA tested, I have slightly more paternal matches, without my father, than maternal matches, with my mother. Of course, in my case, that is at least partly a result of the fact that my mother has so many fewer matches herself due to her very recent old world heritage on several lines. Don’t think though, for one minute, that you have to have parents or siblings tested for Family Finder bucketed matching to be useful. You don’t. Even second and third cousins are useful and generate bucketed maternal and paternal matches. My 361 paternal matches, all generated from 8 cousins, are testimony to that fact.

The very best thing you can do for yourself is to test the following relatives that will be used to assign your resulting matches with other people to maternal and paternal sides.

  • Your parents
  • If your parents are not both available, all of your full and half siblings
  • Your grandparents
  • Your aunts and uncles
  • Your great-aunts and great-uncles
  • All first, second and third cousins unless they are children of aunts and uncles who have already tested

The new permanent price of $79 for the Family Finder test will hopefully encourage people to test as many family members as they can find! For autosomal genetic genealogy, it’s absolutely the best gift you can give yourself – after testing yourself of course.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Additional Relatives Added to Phased Family Matches at Family Tree DNA

Family Tree DNA has been rolling out updates and upgrades fast and furious.

On July 7th, Family Tree DNA released Phased Family Matches which included phasing to people linked to your tree who have DNA tested who are related to you.  These phased matches allow Family Tree DNA to assign matches to maternal or paternal buckets, or both.  The people that could be utilized for this phased matching were as follows:

  • Parent(s)
  • Aunts
  • Uncles
  • First Cousins
  • Grandparents

Of course, because everyone wants the most people possible in their assigned parental buckets, the first clamor was for the addition of:

  • Half siblings
  • Half “other relatives” such as aunts, uncles, first cousins, etc.
  • Second Cousins
  • Third Cousins

Family Tree DNA said that there would be additional new developments shortly, and exactly 20 days later, they quietly rolled updated capabilities that includes matching to…..you guess it….all of the above, plus more, including:

  • Great-great-grandparents
  • Great-grandparents
  • Grand uncles
  • Grand aunts
  • Great-grandaunts
  • Great-granduncles

I’m certainly envious of anyone who can test their great-grandmother – although my grandchildren have their great-grandmother, grandmother and both parents in the system.

In my case, before this change, the only relative that I had in the system that originally qualified was my mother. I was very excited to have people in my maternal bucket and was wishing for people in my paternal bucket. I do have several cousins who have tested on my paternal side, but none as close as 1st cousins.

Imagine my delight when I signed on to my account and discovered 359 individuals in my paternal bucket and one in both, in addition to my 256 maternal phased matches.

Both Buckets

These 359 phased paternal matches come from the combination of the following 8 individuals that have tested and I had previouisly linked to me in my tree:

  • Half sister’s granddaughter
  • Two first cousins once removed
  • One first cousin twice removed
  • One second cousin
  • One second cousin once removed
  • Two third cousins

Of course, now I’m searching through my DNA matches to see if I have anyone else who qualifies that has tested.

And I’m thinking about any other cousins that would benefit my phased parental bucket assignments if I were to be able to convince them to test.

I unlinked and relinked a few people to see how many people were added to the buckets because of them.

The second cousin once removed added 12 new people. Yet, one of the third cousins added 82, so you really never know. Some of the people who might have been added to a bucket by the second cousin may have already been added to the parental bucket by an earlier match.

Regardless, the more people linked to your tree from third cousins closer, the better your chances for having people assigned to maternal and paternal sides of your tree, even without having your parents.

Keep linking people in your tree when you know where and how they connect to you – regardless of where they are located in your tree.  You never know how that may benefit you – which morning you may wake up and find additional information or more people in your buckets.  What a great surprise!!!

This is a pretty amazing feat if you think about it, given that just a few years ago autosomal testing wasn’t available at all, and even today, no other vendor does phased matching, assigning individuals to maternal or paternal buckets utilizing parents and other relatives when parents aren’t available.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Nine Autosomal Tools at Family Tree DNA

The introduction of the Phased Family Finder Matches has added a new way to view autosomal DNA results at Family Tree DNA and a powerful new tool to the genealogists toolbox.

The Phased Family Finder Matches are the 9th tool provided for autosomal test results by Family Tree DNA. Did you know where were 9?

Each of the different methodologies provides us with information in a unique way to assist in our relentless search for cousins, ancestors and our quests to break down brick walls.

That’s the good news.

The not-so-good news is that sometimes options are confusing, so I’d like to review each tool for viewing autosomal match information, including:

  • When to use each tool
  • How to use each tool
  • What the results mean to you
  • The unique benefits of each tool
  • The cautions and things you need to know about each tool including what they are not

The tools are:

  1. Regular Matching
  2. ICW (In Common With)
  3. Not ICW (Not In Common With)
  4. The Matrix
  5. Chromosome Browser
  6. Phased Family Matching
  7. Combined Advanced Matching
  8. MyOrigins Matching
  9. Spreadsheet Matching

You Have Options

Family Tree DNA provides their clients with options, for which I am eternally grateful. I don’t want any company deciding for me which matches are and are not important based on population phasing (as opposed to parental phasing), and then removing matches they feel are unimportant. For people who are not fully endogamous, but have endogamous lines, matches to those lines, which are valid matches, tend to get stripped away when a company employs population based phasing – and once those matches are gone, there is no recovery unless your match happens to transfer their results to either Family Tree DNA or GedMatch.

The great news is that the latest new option, Phased Family Matching, is focused on making easy visual comparisons of high quality parental matches which is especially useful for those who don’t want to dig deeply.

There are good options for everyone at all ranges of expertise, from beginners to those who like to work with spreadsheets and extract every teensy bit of information.

So let’s take a look at all of your matching options at Family Tree DNA. If you’re not taking advantage of all of them, you’re missing out. Each option is unique and offers something the other options don’t offer.

In case you’re curious, I’ll be bouncing back and forth between my kit, my mother’s kit and another family member’s kit because, based on their matches utilizing the various tools, different kits illustrate different points better.

Also, please note that you can click on any image to see a larger version.

Selecting Options

FF9 options

Your selection options for Family Finder are available on both your Dashboard page under the Family Finder heading, right in the middle of the page, and the dropdown myFTDNA menu, on the upper left, also under Family Finder.

Ok, let’s get started. 

#1 – Regular Matching

By regular matching, I’m referring to the matches you see when you click on the “Matches” tab on your main screen under Family Finder or in the dropdown box.

FF9 regular matching

Everyone uses this tool, but not everyone knows about the finer points of various options provided.

There’s a lot of information here folks. Are you systematically using this information to its full advantage?

Your matches are displayed in the highest match first order. All of the information we utilize regularly (or should) is present, including:

  • Relationship Range
  • Match Date
  • Shared CentiMorgans
  • Longest (shared) Block
  • X-Match
  • Known Relationship
  • Ancestral Surnames (double click to see entire list)
  • Notes
  • E-mail envelope icon
  • Family Tree
  • Parental “side” icon

The Expansion “+” at the right side of each match, shown below, shows us:

  • Tests Taken
  • mtDNA haplogroup
  • Y haplogroup

Clicking on your match’s profile (their picture) provides additional information, if they have provided that information:

  • Most distant maternal ancestor
  • Most distant paternal ancestor
  • Additional information in the “about me” field, sometimes including a website link

On the match page, you can search for matches either by their full name, first name, last name or click on the “Advanced Search” to search for ancestral surname. These search boxes can be found at the top right.

FF9 advanced search

The Advanced Search feature, underneath the search boxes at right, also provides you with the option of combining search criteria, by opening two drop down boxes at the top left of the screen.

FF9 search combo

Let’s say I want to see all of my matches on the X chromosome. I make that selection and the only people displayed as matches are those whom I match on the X chromosome.

You can see that in this case, there are 280 matches. If I have any Phased Family Matches, then you will see how many X matches I have on those tabs too.

The first selection box works in combination with the second selection box.

FF9 search combo 2

Now, let’s say I want to sort in Longest Block Order. That section sorts and displays the people who match me on the X chromosome in Longest Block Order.

FF9 longest block

Prerequisites

  • Take the Family Finder test or transfer your results from either 23andMe (V3 only) or Ancestry (V1 only, currently.)
  • Match must be over the matching threshold of 9cM if shared cM are less than 20, or, the longest block must be at least 7.69 cM if the total shared cM is 20 or greater.

Power Features

  • The ability to customize your view by combining search, match and sort criteria.

Cautions

  • It’s easy to forget that you’re ONLY working with X matches, for example, once you sort, and not all of your matches. Note the Reset Filter button above your matches which clears all of the sort and search criteria. Always reset, just to be on the safe side, before you initiate another sort.

FF9 reset filter

  • Please note that the search boxes and logic are in the process of being redesigned, per a conversation Michael Davila, Director of Product Development, on 7-20-2016. Currently, if you search for the name “Donald,” for example, and then do an “in common with” match to someone on the Donald match list, you’ll only see those individuals who are in common with “Donald,” meaning anyone without “Donald” as one of their names won’t show as a match. The logic will be revised shortly so that you will see everyone “in common with,” not just “Donald.” Just be aware of this today and don’t do an ICW with someone you’ve searched for in the search box until this is revised.

#2 – In Common With (ICW)

You can select anyone from your match list to see who you match in common with them.

This is an important feature because it gives me a very good clue as to who else may match me on that same genealogical line.

For example, cousin Donald is related on the paternal line. I can select Donald by clicking the box to the left of his profile which highlights his row in yellow. I can then select what I want to do with Don’s match.

FF9 ICW

You will see that Don is selected in the match selection box on the lower left, and the options for what I can do with Don are above the matches. Those options are:

  • Chromosome Browser
  • In Common With
  • Not in Common With

Let’s select “In Common With.”

Now, the matches displayed will ONLY be those that I match in common with Don, meaning that Donald and I both match these people.

FF9 ICW matches

As you can see, I’m displaying my matches in common with Don in longest block order. You can click on any of the header columns to display in reverse order.

There are a total of 82 matches in common with Don and of those, 50 are paternally assigned. We’ll talk about how parental “side” assignments happen in a minute.

Prerequisites

  • None

Power Features

  • Can see at a glance which matches warrant further inspection and may (or may not) be from a common genealogical line.

Cautions

  • An ICW match does NOT mean that the matching individual IS from the same common line – only genealogical research can provide that information.
  • An ICW matches does NOT mean that these three people, you, your match and someone who matches both of you is triangulated – meaning matching on the same segment. Only individual matching with each other provides that information.
  • It’s easy to forget that you’re not working with your entire match list, but a subset. You can see that Donald’s name appears in the box at the upper left, along with the function you performed (ICW) and the display order if you’ve selected any options from the second box.

# 3 – Not In Common With

Now, let’s say I want to see all of my X matches that are not in common with my mother, who is in the data base, which of course suggests that they are either on my father’s side or identical by chance. My father is not in the data base, and given that he died in 1963, there is no chance of testing him.

Keep in mind though that because X matches aren’t displayed unless you have another qualifying autosomal segment, that they are more likely to be valid matches than if they were displayed without another matching segment that qualifies as a match.

For those who don’t know, X matches have a unique inheritance pattern which can yield great clues as to which side of your tree (if you’re a male), and which ancestors on various sides of your tree X matches MUST come from (males and females both.) I wrote about this here, along with some tools to help you work with X matches.

To utilize the “Not In Common With” feature, I would select my mother and then select the “Not In Common With” option, above the matches.

FF9 NICW

I would then sort the results to see the X matches by clicking on the top of the column for X-Match – or by any other column that I wanted to see.

FF9 NICW X

I have one very interesting not in common with match – and that’s with a Miller male that I would have assumed, based on the surname, was a match from my mother’s side. He’s obviously not, at least based on that X match. No assuming allowed!

Prerequisites

  • None

Power Features

  • Can see at a glance which matches warrant further inspection and may be from a common genealogical line – or are NOT in common with a particular person.

Cautions

  • Be sure to understand that “not in common with” means that you, the person you match and the list of people shown as a result of the “Not ICW” do not all match each other.  You DO match the person on your match list, but the list of “not in common with” matches are the people who DON’T match both of you.  Not in common with is the opposite of “in common with” where your match list does match you and the person you’re matching in common with.
  • The X and other chromosome matches may be inherited from different ancestors. Every matching segment needs to be analyzed separately.

#4 – The Matrix

Let’s say that I have a list of matches, perhaps a list of individuals that I found doing an ICW with my cousin, and I wonder if these people match each other. I can utilize the Matrix grid to see.

Going back to the ICW list with cousin Donald, let’s see if some of those people match each other on the Matrix.

Let’s pick 5 people.

I’m selecting Cheryl, Rex, Charles, Doug and Harold.

Margaret Lentz chart

I’m making these particular selections because I know that all of these people, except Harold, are related to my mother, Barbara, shown on the bottom row of the chart above.  This chart, borrowed from another article (William is not in this comparison), shows how Cheryl, Rex, Charles and Barbara who have all DNA tested are related to each other.  Some are related through the Miller line, some through the dual Lentz/Miller line, and some just from the Lentz line.  Doug is related through the Miller line only, and at least 4 generations upstream. Doug may also be related through multiple lines, but is not descended from the Lentz line.

The people I’ve selected for the matrix are not all related to each other, and they don’t all share one common ancestral line.

Harold is a wild card – I have no idea how he is related or who he is related to, so let’s see what we can determine.

FF9 Matrix choices

As you make selections on the Matrix page, up to 10 selections are added to the grid.

FF9 Matrix grid

You can see that Charles matches Cheryl and Harold.

You can see that Rex matches Charles and Cheryl and Harold.

You can see that Doug matches only Cheryl, but this isn’t surprising as the common line between Doug and the known cousins is at least 4 generations further back in time on the Miller line.

The known relationship are:

  • Don and Cheryl are siblings, descended from the Lentz/Miller.
  • Rex is a known cousin on the Miller/Lentz line
  • Charles is a known cousin on the Lentz line only
  • Doug is a known cousin on the Miller line only

Let me tell you what these matches indicate to me.

Given that Harold matches Rex and Charles and Cheryl, IF and that’s a very big IF, he descends from the same lines, then he would be related to both sides of this family, meaning both the Miller and Lentz lines.

  • He could be a downstream cousin after the Lentz and Miller lines married, meaning a descendant of Margaret Lentz and John David Miller, or other Miller/Lentz couples
  • He could be independently related to both lines upstream. They did intermarry.
  • He could be related to Charles or Rex through an entirely separate line that has nothing to do with Lentz or Miller.

So I have no exact answer, but this does tell me where to look. Maybe I could find additional known Lentz or Miller line descendants to add to the Matrix which would provide additional information.

Prerequisites

  • None

Power Features

  • Can see at a glance which matches match each other as well.

Cautions

  • Matrix matches do NOT mean that these individuals match on the same segments, it just means they do match on some segment. A matrix match is not triangulation.
  • Matrix matches can easily be from different lines to different ancestors. For example, Harold could match each one of three individuals that he matches on different ancestral lines that have nothing to do with their common Lentz or Miller line.

#5 – Chromosome Browser

I want to know if the 5 individuals that I selected to compare in the Matrix match me on any of the same segments.

I’m going back to my ICW list with cousin Donald.

I’ve selected my 5 individuals by clicking the box to the left of their profiles, and I’m going to select the chromosome browser.

FF9 chromosome browser choices

The chromosome browser shows you where these individuals match you.

Overlapping segments mean the people who overlap all match you on that segment, but overlapping segments do NOT mean they also match each other on these same segments.

Translated, this means they could be matching you on different sides of your family or are identical by chance. Remember, you have two sides to your chromosome, a Mom’s side and a Dad’s side, which are intermingled, and some people will match you by chance. You can read more about this here.

The chromosome browser shows you THAT they match you – it doesn’t tell you HOW they match you or if they match each other.

FF9 chromosome browser view2

The default view shows matches of 5cM or greater. You can select different thresholds at the top of the comparison list.

You’ll notice that all 5 of these people match me, but that only two of them match me on overlapping segments, on chromosome 3. Among those 5 people, only those who match me on the same segments have the opportunity to triangulate.

This gives you the opportunity to ask those two individuals if they also match each other on this same chromosome. In this case, I have access to both of those kits, and I can tell you that they do match each other on those segments, so they do triangulate mathematically. Since I know the common ancestor between myself, Cheryl and Rex, I can assign this segment to John David Miller and Margaret Lentz. That, of course, is the goal of autosomal matching – to identify the common ancestor of the individuals who match.

You also have the option to download the results of this chromosome browser match into a spreadsheet. That’s the left-most download option at the top of the chromosomes. We’ll talk about how to utilize spreadsheets last.

The middle option, “view in a table” shows you these results, one pair of individuals at a time, in a table.

This is me compared to Rex. You will have a separate table for each one of the individuals as compared to you. You switch between them at the bottom right.

FF9 chromosome browser table2

The last download option at the furthest right is for your entire list of matches and where they match you on your chromosomes.

Prerequisites

  • None

Power Features

  • Can visually see where individuals and multiple people match you on your chromosomes, and where they overlap which suggests they may triangulate.

Cautions

  • When two people match you on the same chromosome segment, this does not mean that they also match each other on that segment. Matching on overlapping segments is not triangulation, although it’s the first step to triangulation.
  • For triangulation, you will need to contact your matches to determine if they also match each other on the same segment where they both match you. You may also be able to deduce some family matching based on other known individuals from the same line that you also match on that same segment, if your match matches them on that segment too.
  • The chromosome browser is limited to 5 people at a time, compared to you. By utilizing spreadsheet matching, you can see all of your matches on a particular segment, together.

#6 – Phased Family Matching

Phased Family Matching is the newest tool introduced by Family Tree DNA. I wrote about it here. The icons assigned to matches make it easy to see at a glance which side of your family, maternal or paternal, or both, a match derives from.

ff9 parental iconPhased Family Matching allows you to link the DNA results of qualified relatives to your tree and by doing so, Family Tree DNA assigns matches to maternal or paternal buckets, or sometimes, both, as shown in the icon above.

This phased matching utilizes both parental phasing in addition to a slightly higher threshold to assure that the matches they assign to parental sides can be done so with confidence. In order to be assigned a maternal or paternal icon, your match must match you and your qualifying relative at 9cM or greater on at least one of the same segments over the matching threshold. This is different than an ICW match, which only tells you that you do match, not how you match or that it’s on the same segment.

Qualifying relatives, at this time, are parents, grandparents, uncles, aunts and first cousins. Additional relatives are planned in the near future.

Icons are ONLY placed based on phased match results that meet the criteria.

These icons are important because they indicate which side of your family a match is from with a great deal of precision and confidence – beyond that of regular matching.

This is best illustrated by an example.

Phased FF2

In this example, this individual has their father and mother both in the system. You can see that their father’s side is assigned a blue icon and their mother’s side is assigned a pink (red) icon. This means they match this person on only one side of their family.  A purple icon with both a male and female image means that this person is related to you on both sides of your family.  Full siblings, when both parents are in the system to phase against, would receive both icons.

This sibling is showing as matching them on both sides of their family, because both parents are available for phasing.

If only one parent was available, the father, for example, then the sibling would only shows the paternal icon. The maternal icon is NOT added by inference. In Phased Family Matching, nothing is added by inference – only by exact allele by allele matching on the same segment – which is the definition of parentally phased matching.

These icons are ONLY added as a result of a high quality phased matches at or above the phased match threshold of 9cM.

You can read more about the Family Matching System in the Family Tree DNA Learning Center, here.

Prerequisites

  • You must have tested (or transferred a kit) for a qualifying relative. At this time qualifying relatives parents, grandparents, aunts, uncles and first cousins.
  • You must have uploaded a GEDCOM file or created a tree.
  • You must link the DNA of qualifying kits to that person your tree. I provided instructions for how to do this in this article.
  • You must match at the normal matching threshold to be on the match list, AND then match at or above the Phased Family Match threshold in the way described to be assigned an icon.
  • You must match on at least one full segment at or above 9cM.

Power Features

  • Can visually see which side of your family an individual is related to. You can be confident this match is by descent because they are phased to your parent or qualifying family member.

Cautions

  • If someone does not have an icon assigned, it does NOT mean they are not related on that particular side of the family. It only means that the match is not strong enough to generate an icon.
  • If someone DOES match on a particular side of the family, you will still need to do additional matching and genealogy work to determine which ancestor they descend from.
  • If someone is assigned to one side of your family, it does NOT preclude the possibility that they have a smaller or weaker match to your other side of the family.
  • If you upload a new Gedcom file after linking DNA to people in your tree, you will overwrite your DNA links and will have to relink individuals.
  • Having an icon assigned indicates mathematical triangulation for the person who tested, their parents or close relative against whom they were phased and their match with the icon.  However, technically, it’s not triangulation in cases where very close relatives are involved.  For example, parents, aunts, uncles and siblings are too closely related to be considered the third leg of the triangulation stool.  First cousins, however, in my opinion, could be considered the third leg of the three needed for triangulation.  Of course when triangulation is involved, more than three is always better – the more the merrier and the more certain you can be that you have identified the correct ancestor, ancestral couple, or ancestral line to assign that particular triangulated segment to.

# 7 – Combined Advanced Matching

One of the comparison tools often missed by people is Combined Advanced Matching.

Combined matching is available through the “Tools and Apps” button, then select “Advanced Matching.”

Advanced Matching allows you to select various options in combination with each other.

For example, one of my favorites is to compare people within a project.

You can do this a number of ways.

In the case of my mother, I’ll select everyone she matches on the Family Finder test in the Miller-Brethren project. This is a very focused project with the goal of sorting the Miller families who were of the Brethren faith.

FF9 combined matching

You can see that she has several matches in that project.

You can select a variety of combinations, including any level of Y or mtDNA testing, Family Finder, X matching, projects and “last name begins with.”

One of the ways I utilize this feature often is within a surname project, for males in particular, I select one Y level of matching at a time, combined with Family Finder, “show only people I match on all tests” and then the project name. This is a quick way to determine whether someone matches someone on Family Finder that is also in a particular surname project. And when your surname is Smith, this tool is extremely valuable. This provides a least a hint as to the possible distance to a common ancestor between individuals.

Another favorite way to utilize this feature is for non-surname projects like the American Indian project. This is perfect for people who are hunting for others with Native roots that they match – and you can see their Y and mtDNA haplogroups as a bonus!

Prerequisites

  • Must have joined the particular project if you want to use the project match feature within that project.

Power Features

  • The ability to combine matching criteria across products.
  • The ability to match within projects.
  • The ability to specify partial surnames.

Cautions

  • If you match someone on both Family Finder and either Y or mtDNA haplogroups, this does NOT mean that your common Family Finder ancestor is on that haplogroup line. It might be a good place to begin looking. Check to see if you match on the Y or mtDNA products as well.
  • All matches have their haplogroup displayed, not just IF you also match that haplogroup, unless you’ve specified the Y or mtDNA options and then you would only see the people you match which would be in the same major haplogroup, although not always the same subgroup because not everyone tests at the same level.
  • Not all surname project administrators allow people who do not carry that surname in the present generation to join their projects.

# 8 – MyOrigins Matching

One tool missed by many is the MyOrigins matching by ethnicity. For many, especially if you have all European, for example, this tool isn’t terribly useful, but if you are of mixed heritage, this tool can be a wonderful source of information.

Your matches (who have authorized this type of matching) will be displayed, showing only if they match you on your major world categories.  Only your matching categories will show.  For example, if my match, Frances, also has African heritage and I do not, I won’t see Frances’s African percentage and vice versa.

FF9 myOrigins

In this example, the person who tested falls into the major categories of European and Middle Eastern. Their matches who fall into either of these same categories will be displayed in the Shared Origins box. You may not be terribly excited about this – unless you are mixed African, Asian, European and Native American – and you have “lost ancestors” you can’t find. In that case, you may be very excited to contact other matches with the same ethnic heritage.

When you first open your myOrigins page, you will be greeted with a choice to opt in (by clicking) or to opt out (by doing nothing) of allowing your ethnic matches to view the same ethnic groups you carry. Your matches will not be able to see your ethnic groups that they don’t have in common with you.

FF9 myorigins opt in

You can also access those options to view or change by clicking on Account Settings, Privacy and Sharing, and then you can view or change your selection under “My DNA Results.”

FF9 myorigins security

Prerequisites

  • Must authorize Shared Origins matching.

Power Features

  • The ability to discern who among your matches shares a particular ethnicity, and to what degree.

Cautions

  • Just because you share a particular ethnicity does NOT mean you match on the shared ethnic line. Your common ancestor with that person may be on an entirely unrelated line.

# 9 – Spreadsheet Matching

Family Tree DNA offers you the ability to download your entire list of matches, including the specific segments where your matches match you, to a spreadsheet.

This is the granddaddy of the tools and it’s a tool used by all serious genetic genealogists. It’s requires the most investment from you both in terms of understanding and work, but it also yields the most information.

The power of spreadsheet comparisons isn’t in the 5 people I pushed through to the chromosome browser, in and of themselves, but in the power of looking at the locations where all of your matches match you and known relatives on particular segments.

Utilizing the chromosome browser, we saw that chromosome 3 had an overlap match between Rex (green) and Cheryl (blue) as compared to my mother (background chromosome.)

FF9 chr 3

We see that same overlap between Cheryl and Rex when we download the match spreadsheet for those 5 people.

However, when we download all of my mother’s matches, we have a much more powerful view of that segment, below. The 2 segments we saw overlapping on the chromosome browser are shown in green. All of these people colored pink match my mother on some part of the 37cM segment she shares with Rex.

FF9 spreadsheet match

This small part of my master spreadsheet combines my own results, rows in white, with those of my mother, rows in pink.

In this case, I only match one of these individuals that mother also matches on the same segment – Rex. That’s fine. It just means that I didn’t receive the rest of that DNA from mother – meaning the portions of the segments that match Sam, Cheryl, Don, Christina and Sharon.

On the first two rows, I did receive part of that DNA from mother, 7.64 of the 37cMs that Rex matches to Mom at a threshold of 5cM.

We know that Cheryl, Don and Rex all share a common ancestor on mother’s father’s side three generations removed – meaning John David Miller and Margaret Lentz. By looking at Cheryl, Don and Rex’s matches as well, I know that several of her matches do triangulate with Cheryl, Don and/or Rex.

What I didn’t know was how Christina fit into the picture. She is a new match. Before the new Phased Family Matching, I would have had to go into each account, those of Rex, Cheryl and Don, all of which I manage, to be sure that Christina matched all of them individually in addition to Mom’s kit.

I don’t have to do that now, because I can utilize the phased Family Matching instead. The addition of the Family Matching tool has taken this from three additional steps, assuming I have access to all kits, which most people don’t, to one quick definitive step.

Cheryl and Don are both mother’s first cousins, so matches can be phased against them. I have linked both of them to mother’s kit so she how has several individuals who are phased to Don and Cheryl which generate paternal icons since Don and Cheryl are related to mother on her father’s side.

Now, instead of looking at all of the accounts individually, my first step is to see if Christina has a paternal icon, which, in this case, means she phased against either Don and/or Cheryl since those are the only two people linked to mother who qualify for phasing, today.

FF9 parental phased match

Look, Christina does have a paternal icon, so I can add “Dad” into the side column for Christine in the spreadsheet for mother’s matches AND I know Christina triangulates to Mom and either Cheryl or Don, which ever cousin she phased against.

FF9 Christina chr 3

I can see which cousin she phased against by looking at the chromosome browser and comparing mother against Cheryl, Don and Christina.  As it turns out, Christina, in green, above, phased against both Cheryl and Don whose results are in orange and blue.

It’s a great day in the neighborhood to be able to use these tools together.

Prerequisites

  • Must download matches spreadsheet through the chromosome browser, adding new matches to your spreadsheet as they occur.
  • Must have a familiarity with Excel or another spreadsheet.
  • Must learn about matching, match groups and triangulation.

Power Features

  • The ability to control the threshold you wish to work with. For matches over the match threshold, Family Tree DNA provides all segment matches to 1cM with a total of 500 SNPs.
  • The ability to see trends and groups together.
  • The ability to view kits from all of your matches for more powerful matching.
  • The ability to combine your results with those of a parent (or sibling if parents not available) to see joint matching where it occurs.

Cautions

  • There is a comparatively steep learning curve if you’re not familiar with using spreadsheets, but it’s well worth the effort if you are serious about proving ancestors through triangulation.

Summary

I’m extremely grateful for the full complement of tools available at Family Tree DNA.

They provide a range of solutions for users at all levels – people who just want to view their ethnicity or to utilize matches at the vendor site as well as those who want tools like a chromosome browser, projects, ICW, not ICW, the Matrix, ethnicity matching, combined advanced matching and chromosome browser downloads for those of us who want actual irrefutable proof.  No one has to use the more advanced tools, but they are there for those of us who want to utilize them.

I’m sorry, I’m not from Missouri, but I still want to see it for myself. I don’t want any vendor taking the “trust me” approach or doing me any favors by stripping out my data. I’m glad that Family Tree DNA gives us multiple options and doesn’t make one size fit all by using a large hammer and chisel.

The easier, more flexible and informative Family Tree DNA makes the tools, the easier it will be to convince people to test or download their data from other vendors. The more testers, the better our opportunity to find those elusive matches and through them, ancestors.

The Concepts Series

I’ve been writing a “Concepts” series of articles. Recent articles have been about how to utilize and work with autosomal matches on a spreadsheet.

You might want to read these Concepts articles if you’re serious about working with autosomal DNA.

Concepts – How Your Autosomal DNA Identifies Your Ancestors

Concepts – Identical by…Descent, State, Population and Chance

Concepts – CentiMorgans, SNPs and Pickin’ Crab

Concepts – Parental Phasing

Concepts – Downloading Autosomal Data from Family Tree DNA

Concepts – Managing Autosomal DNA Matches – Step 1 – Assigning Parental Sides

Please join me shortly for the next Concepts article – Step 2 – Who’s Related to Whom?

In the meantime:

  • Make full use of the autosomal tools available at Family Tree DNA.
  • Test additional relatives meaning parents, grandparents, aunts, uncles, half-siblings, siblings, any cousin you can identify and talk into testing.
  • Take test kits to family reunions and holiday gatherings. No, I’m not kidding.
  • Don’t forget Y or mtDNA which can provide valuable tools to identify which line you might have in common, or to quickly eliminate some lines that you don’t have in common. Some cousins will carry valuable Y or mtDNA of your direct ancestral lines – and that DNA is full of valuable and unique information as well.
  • Link the DNA kits of those individuals you know to their place in your tree.
  • Transfer family kits from other vendors.

The more relatives you can identify and link in the system, the better your chances for meaningful matches, confirming ancestral relations, and solving puzzles.

Have fun!!!

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Disclosure

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Thank you so much.

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Family Tree DNA Introduces Phased Family Finder Matches

Family Tree DNA has released a first of its kind tool that sorts your matches into parental buckets by utilizing tests performed on parents and close relatives.

Phased FF2

On your matches page, if your parents or other close relatives have tested, and their tests are linked on your tree, your matches will be grouped into maternal or paternal buckets, or both, utilizing a proprietary matching and phasing algorithm.  You can see the appropriate bucket icon beside the match photo, as well as new tabs at the top to allow you to view your paternal, maternal or matches to both parents.

If your parents haven’t tested, or aren’t linked, your maternal, paternal and both tabs at the top of your page will reflect “0” and they won’t be relevant to you.  However, if your parents or other close relatives have tested, your tab, after processing, will show the number of individuals that fall into maternal, paternal or both match buckets.  Close relatives, at this point, are defined as parents, aunts and uncles, grandparents and first cousins.

This is not just a sorting of matches, based on names of who matches you and a parent, like the “In Common With” tool, but true parental phasing. Each person deposited into a maternal or paternal bucket as a match must match you and your parent or otherwise designated individual in a prescribed way including:

  • On the same segment
  • At a specific threshold

The Phasing Threshold is Higher

The threshold to be indicated as a maternal or paternal match is higher than the normal matching threshold – so some people who do match you and a parent won’t be assigned to a bucket.

Why?

Acting conservatively, Family Tree DNA wants to be positive that this person really does fall into that bucket. You’ll notice that the example individual has 3 people that match both parents. At a lower threshold, there were a lot more dual matches when the product was in testing. At higher threshold levels, people tend to distinctly fall into one bucket or the other in non-endogamous populations. It was actually surprising how many people do legitimately match both parents.

So, to be clear, there are two thresholds in play here:

You will notice that some people who do match both you and a parent do not have a maternal or paternal indicator. That does NOT mean they don’t match you and a parent, but it does mean that the match was at a lower level, or not on the same segment, so Family Tree DNA feels that they can’t positively be assigned to a bucket. That doesn’t mean you should disregard them, but you probably should utilize the stronger matches first and scrutinize non-assigned matches closely by downloading your Chromosome Browser results.

Roughly 10-15 percent of your matches tend to be identical by either chance or population, and that percentage is higher in endogamous groups.  The dual thresholds are meant to minimize those ambiguous matches, yet leave them on your match list for you to analyze.  This is the best approach that provides an intuitive easy visual for those who want that type of approach, but allowing thorough analysis for those who prefer that methodology.  Personally, I like using them together.  The buckets are an easy way to quickly see which side your strongest matches are assigned to.  Given the dual threshold approach, the fact that a match is assigned to a bucket immediately indicates the strength of the match – so it’s a quick and easy gauge.

ICW is Improved

Additionally, you can now utilize the ICW (In Common With) tool, which has moved to the top of the match list, by clicking on the check on the left of the match and then clicking on either “In Common With” or “Not In Common With” to see who else matches, or doesn’t.

You may be very surprised to see that your “in common with” list for a match from your father’s side also includes people from your mother’s side. This is, of course, a red flag as to the validity of that particular paternal ICW match – and it’s so easy to spot now with the parental icons.

Please note that if you utilize the ICW tool when you are on your “All” tab, you will see all ICW matches, but if you are on the paternal, maternal or both tab, and utilize the ICW tool, you will ONLY see people that are ICW on that side of your tree.

So, for example, John Doe, a paternal cousin, matches me and my father and has the blue paternal icon assigned. On my “All” tab, utilizing he ICW tool, I see that John Doe and I have two matches in common. One of those matches is from my father’s side and one from my mothers. It’s easy to see looking at the blue and red icons. Now, if I go to my “Paternal” tab and then perform the ICW comparison with John Doe, ONLY the ICW match from the paternal side will show. You need to be cognizant of where you are on the tabs in terms of what the ICW tool matches mean.

Eligibility

In order for an individual to be eligible for maternal or paternal matching, they must have linked themselves to their parent or other close relative on their tree, not only in terms of name, but in terms of having DNA tested. In other words, the individual on your tree has to be linked to a tested individual in the system.

The Family Tree DNA Learning Center shows how to do this here. Please read this information in the Matches Section before linking people to learn about link hints.

Phased FF link hint

In some cases, if names are different, you won’t have a link hint. For example, my mother is in my tree with her maiden name, but she tested under her married name, so I didn’t have a link hint.  Link hints only work when Family Tree DNA can recognize the same names.  When I linked the two, meaning my mother’s kit to her name in my tree, the software changed her name to the name on her test kit.  So, I’ll be changing the name on her test kit to her maiden name:)

Phased FF4

By going to your tree and clicking on DNA matches in the upper left hand corner, you will see a list of your matches and you can select an individual and drag them to the same person in your tree. In this case, I’ve already done that with my mother, so the link is blue and I see the “already in your tree” message, but if that person wasn’t linked, the link wouldn’t show and I would see a “click and drag to your tree” message instead.

Phased FF3

Not Just Parents

In my case, my mother has tested, but my father is long deceased, so there is no testing for him. If I have uncles or even 1st cousins, I can link them to the paternal side of my tree and if matches match both me and my paternal family member utilizing the phasing criteria, they will be displayed as paternal matches.

Summary

This is a great new tool and the first of its kind in the industry that is actually performing parental phasing as well as utilizing other family members to replace missing parents.

Family Tree DNA has been preparing for this release for some time behind the scenes with the recently revamped tree user interface and the matching update released a month or so ago. This is very exciting, especially for people who want to see at a glance without having to download a chromosome browser spreadsheet who is maternal and paternal.

Additionally, the new software allows us to link people tested to our tree. In my case, I had an ancestor only tree, so I’ve been busy expanding my paternal side of the tree to accommodate all of those cousins I’ve recruited to test because I want those easy-to-see paternal buckets and I can’t test my father.

Family Tree DNA isn’t done either, so do expand your tree and link all of the people of KNOWN heritage, meaning known cousins, who have tested, to take full advantage of this new phasing feature and in preparation for future developments yet to come!

Woohoo!!!  Good job Family Tree DNA!

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Concepts – Managing Autosomal DNA Matches – Step 1 – Assigning Parental Sides

Lots of people have struggled with exactly how to identify and work with autosomal DNA matches, create DNA match groups and triangulation groups, which isn’t at all the same thing. Add to that multiple testing vendors who provide you with different types information in different formats, and it’s a challenge.

Now I have a confession to make. I’ve gotten very behind on keeping up with matches and such.  Family Tree DNA recently made improvements to their matching algorithm which changes the matching amounts with several of my matches, so I’m going to “start over” with my matching spreadsheet and use the steps as an example for you of how you can do this.  Yes, I will preserve what info I have previously collected, of course, but if I’m adding something from previous information, I’ll tell you.

Goal: I want to see how much I can figure out from what I have available to me at the three vendors.

There has been a lot of discussion recently about the lack of communication when people attempt to communicate with their matches – so let’s see what we can do with just DNA.

I don’t know how many steps this series will be. We’ll see.  I’m trying to do this in manageable “bites.”  And yes, there will be some homework, but don’t think of it that way.  Think of it as panning for gold – your ancestors!!!

Before we go on, let’s talk about who these techniques in today’s article work best for:

  • People with one or both parents
  • People with known cousins

Adoptees or people with no known cousins can still learn about sorting and matching, but will not be able to assign genealogical sides to matches without working with their matches to discover their shared ancestor.

Adoptees should be utilizing a different set of techniques taught by www.dnaadoption.com.

People who are not adoptees but who have no known cousins who have tested will, hopefully, be able to identify ancestral groups based on the genealogy of the other people in match groups.  Perhaps they will discover new cousins.

So, stay with me and just skip steps that you don’t think apply to you AFTER reading them.

What We’re Doing in this Article

In this article we’re going to do the following:

  • Combine you and your parent(s) match results into a single spreadsheet
  • Do some preparatory maintenance
  • Sort the spreadsheet so you can see common matches
  • Identify matches to a maternal or paternal side of your family
  • Further identify parental “sides” based on known cousin matches

Matches and Stats

So let’s start with some basic information.

At Family Tree DNA, I have 1470 matches and my mother has 803.

Why does my mother have only about half of the number of matches that I do? Three of her 4 grandparents came from the old country.  All of the data bases are highly skewed towards “New World” testers.  My father’s line is very colonial and has been in the US, having children, lots of children, for hundreds of years now.

My father was deceased in 1963, so clearly I don’t have his DNA in any database, except the Y by virtue of other Estes males and at GedMatch by virtue of a phased parent kit.  We’ll work with GedMatch in a future article.

I provided instructions for how to download your chromosome browser matches at Family Tree DNA here. If you haven’t done that, do it now for the following people:

  • You
  • Both of your parents
  • One of your parents if you don’t have both
  • If you don’t have both parents, download the files for FULL siblings only

If you haven’t already done so, save the files as Excel files and not CSV files, as the CSV format does not support some of the coloration and other functions we’ll be doing. (File, save as, Excel Workbook)

Why Full Siblings?

If you have the DNA results for both parents, you don’t need your sibling data, and it will just add unnecessary bulk to your file. However, if you don’t have either parent or only one parent, your full siblings’ information will be helpful.

You receive 50% of your DNA from your parents. Your siblings do too, but not the exact same 50% (unless you are identical twins.)  Therefore, the matches your full siblings receive, especially in the absence of one or both parents, are as relevant to your genealogy as your own matches.  Therefore, you can obtain some of the matches your parents would have had, if you had their DNA results, by virtue of including your full siblings matches.

Selecting Files and Colors

You are going to be combining spreadsheet files for you, your parents and your full siblings if you don’t have both parents.

The file you want to combine is the file that shows your chromosome matches to other participants. When you download results from Family Tree DNA, there are two files titled:

  • Family Finder Matches
  • Chromosome Browser Results

The chromosome browser results file is the one you want and includes the following information.

sides header

Select the Chromosome Browser file to work with that holds your results and save it with a title something like “DNA Master Spreadsheet.”  That’s the file you’ll be adding to for the duration…meaning forever.

Before proceeding, I want you to think for a minute about coloration.  You’re going to color different family members’ results different colors so you can recognize them at a glance and so that sorting and discerning matches is easier.

In my case, I left my rows as white. I colored my Mom’s file pink and while I don’t have a father at Family Tree DNA, he would be colored blue if I did.  This makes it easy for me to see who is who and it’s intuitive for me.

If I was utilizing full siblings, I would likely color them in some way that makes sense but is easily distinguishable from the parents. Maybe sisters would be shades of pink and brothers would be shades of blue.  Whatever you select, make sure it makes sense to you.

Next, you’re going to create the master spreadsheet, and you WILL write down the legend.  Now you may think you’ll remember, but one time I copied additional matches into my spreadsheet and I inverted Mom’s and my colors, pink and white, and it was never right again.  That’s actually part of why I’m “starting over.”

Creating a Master Spreadsheet

Open your spreadsheet (now titled DNA Master Spreadsheet) and color the relevant rows in your color, unless your row color is white, then do nothing.

Open your parent’s spreadsheet(s) and color their rows appropriately.

sides mother

Here’s an example of Mom’s.

You are now going to copy and paste the entire set of information from your mother’s spreadsheet into your spreadsheet to make one combined spreadsheet. Do NOT do this until AFTER the rows are colored.

If you have both parents, repeat this same process for your father’s results after they are colored.

If you have both parents, you don’t need your siblings files because your siblings only inherited part of your parents DNA, and you already have both parents.

If you don’t have BOTH parents, then you’ll add your FULL siblings. Half siblings will be used later for another step, but NOT here because you can’t differentiate easily between what part of their DNA is from your common parent (especially if you share the “missing” parent) and perhaps from their other parent’s side.

If you are utilizing full siblings, then copy their information into the master spreadsheet as well – but not until AFTER it’s colored.

On another spreadsheet tab titled “Legend”, I recorded the following information:

sides legend

Do not neglect this step or you will one day be very sorry!  Voice of experience here.

A Bit of Housekeeping

Because my descendants (children, grandchildren) only received their DNA from me (and their father, ) I removed their results from this spreadsheet. Their DNA is not helpful for identifying MY ancestors.  I also removed the segments where mother and I match each other because they are irrelevant.  It won’t hurt anything if you skip this step.  It just reduces the size of your spreadsheet a bit. 

A Parentally Phased Spreadsheet

You have just created a parentally phased spreadsheet.

Isn’t this exciting?

Now, how does this work?

If you are not familiar with the terms, identical by descent (IBD), identical by population (IBP) and identical by chance (IBC), or need a refresher, this would be a good time to read the “Identical By…” article.

Time to Make A Decision – To Delete or Not

We’re going to be using the terms centiMorgans abbreviated cM and SNPs.  If you’re not familiar with these terms, or would like to review information about using small segments, it would be a good time to read the concepts article about CentiMorgans and SNPs.

Some people remove segments from their spreadsheet below a specific cM size.

I don’t, but my goals may be different than yours. I want to know every single thing possible.  I also participate in the research aspect of genetic genealogy, so if I delete segments of any size, I’m deleting information that may be useful in one way or another, so I don’t delete.

You may not be interested in research, so let me share with you some rules of thumb.

I did a small study on parentally phased matches. You can read about the results in “The Threshold Study” section at the end of this article.

Suffice it to say that when I studied four families of three generations each of non-endogamous families, there seemed to be a cutoff at about 3cM/500 SNPs where segments below that level did not reliably phase for three generations in the same family, and segments above that tended to phase. By phasing, I mean the segment was passed from a grandparent, to a parent, to a grandchild intact.  If you need a refresher about parental phasing, you can read about that here.

On the chart below, from that article, green means the segment phased in all upstream generations and red means that it did not.  The black bar is about where the “reliable phasing line” occurred.

4 family phasing

In one case, in a fifth study, below, I had four generations to work with, and the same threshold seemed to work. 2, 3 and 4 match means that’s how many generations were upstream.  If the segment didn’t match on any upstream individual, it’s counted as a nonmatch.

4 gen phasing

What is the take home message here? If segments don’t even phase reliably within families, they aren’t going to be reliable elsewhere either.

So, unless you’re interested in research, like I am, then you could safely delete any segment below 3cM.

Other genetic genealogists who have been working with triangulated segments a long time use 5cM as a cutoff in non-endogamous populations. I wouldn’t delete segments larger than 5cM, but some do.  Look at it this way, larger segments put the relationship closer in time.  Smaller segments are further away.  If you’re an adoptee and you really only care, for now, about close relationships, then fine, delete as much as you want. But if you’re looking for colonial American ancestors, you might want to consider keeping those smaller segments, at least the ones over 3cM at 500 SNPs, which is the lowest number of SNPs reported by Family Tree DNA.

If you are going to delete, now is the time. Simply sort your spreadsheet by cM size and delete all the rows you don’t want.

Be SURE you know how to sort the entire spreadsheet and not just one column, because if you sort just one column, the rest of the data stays in place which means the rows are all messed up – as in forever.  (Highlight only the column header and sort.  Do not highlight the entire column.)

I’ll close my eyes while you delete!

Different Kinds of Matches Mean Different Things

You will see different types of matches as you work through your spreadsheet.  Don’t do anything to your spreadsheet yet – read this next section first.

Matches if You Have Only One Parent

  • Matches to you only and not your parent – this means they match to your other parent or are IBC.
  • Matches to your parent only and not to you – this probably means you didn’t receive that DNA from your parent (or it’s IBC) but this match is still genealogically very valuable to you.
  • Matches to both you and your parent – this is a phased match meaning you received the matching DNA from that parent because the person matches both you and your parent ON THE SAME SEGMENT.  Why is “on the same segment” capitalized?  Because you can match the same person on different segments through different parents.  Yea, I know, cruel joke!
  • Matches both you and your parent, but not on any common segments – this means your match is either to the other parent, IBC or we’re dealing with an anomaly.  In some cases, a single matching segment has become split into two due to a read error.

Matches if You Have Both Parents

  • Matches to one or both of your parents – You received the matching segment of DNA from the parent whom the other person matches as well. If you are from a highly endogamous population, expect that several of your matches will match you and BOTH parents, potentially on the same segment.  That means your parents shared a common ancestor at some point in time.
  • Matches to your parent(s) and not to you – this means that you did not inherit that DNA from your parents. These are still very valid genealogically relevant matches for you because they match your parents.
  • Matches to only you and neither of your parents – this means the match is either IBC or you have barely missed the matching threshold due to an anomaly. I would label these as suspicious (IBC?) until I could look at them individually and they would be the last matches I worked with.

Sibling Matches with One Parent

If you have full siblings and one parent, you can have the following matches:

  • Your matches match you, at least one sibling and one parent on the same segment. This means that the match is from that parent’s side of your tree, at least on that segment.
  • Your matches match you, at least one sibling and does not match your one parent. This means that the match is from the missing parent’s side of the tree or you and your sibling are identically IBC.

Sibling Matches, No Parent

  • Your matches match you and at least one sibling on the same segment.  This means that you inherited this DNA from a common parent or the segment is identically IBC.
  • Your matches match you and none of your siblings. If you have only one full sibling, this might happen about 25% of the time, but the more siblings you have, the lower the possibility that a match won’t match any of your siblings. This could indicate an IBC segment.  If you know who your match is, for example, a first cousin on your father’s side, and they match you and your sibling(s), that segment of DNA is very likely from your father’s side.

Let’s Start Matching

You are going to sort (not filter) your spreadsheet by column four separate times, in the following column order:

  • End Location
  • Start Location
  • Chromosome
  • MatchName

What this gives you is a spreadsheet sorted by match, but within match the spreadsheet is sorted by chromosome, start and end position, in that order.

Here are my first two matches.  You can see that they are in chromosome order, smallest to largest, for each matching individual.

Sides matches

Since there are no pink interspersed rows, neither of these two people match my mother, so they are either from my father’s side or are IBC. To have an IBC match of 23.73 cM would be highly unusual.  I have seen non-parentally phased segments as high as 8cM which indicates an IBC match, but that’s unusual and I’ve only seen it once.

Add Columns

Add four columns to the right of Matching SNPs column labeled:

  • Side
  • Triangulated
  • Tree
  • Relationship
  • MRCA (Most Recent Common Ancestor)
  • Comments

sides add columns

Some people retain a lot more information in the spreadsheet, such as e-mail address and a communications history other than in comments. I don’t, but you may want to.

Now you’re ready for the fun stuff!!!

Assigning Sides

You’re going to work your way through the entire spreadsheet (after you’ve sorted as per the instructions above) and you’re going to identify the “side” that your matches fall on, as best you can.

Do NOT, and I really mean do NOT assume. So if you see a surname you just KNOW matches one side of your family, do NOT assign it a side unless:

  • you know that person and how they match
  • they match your parent or close relative

When I did this step, I had 10 sure foolers that would have been WRONG if I had made that assumption.  Don’t fall into that trap.

Let me give you two quick examples.

One of my mother’s surname lines is Lore which is spelled a variety of ways, including Lohr.  There was a Lohr male, but he did not match my mother, so he is clearly not from her side.

There is an other individual with the surname Dotson, which is one of my father’s lines, but she matches both me and my mother.

No assuming allowed!  Thank goodness for tools.

A Phased Parent Match

sides phased parent

Here’s what a phased parent match looks like. You can see that Alfred matches me and Mom both on at least some of the same segments.  This firmly puts this individual on “Mom’s side.”  In the column labeled “Side,” type Mom.

Let’s take a minute and look at this match, row by row.

sides phased parent segments

The rows where Alfred matches my mother but not me are shown in yellow in the chromosome column. This means that either I didn’t inherit those segments, or they were IBC matches.

The rows colored green are the segments where Alfred matches both mother and me.  That’s a respectable size segment, so very unlikely to be IBC and probably inherited from a common ancestor.

The rows colored red are where Alfred matches me, but not mother, meaning these segments are NOT parentally phased. If you look at the segment size, all of these with one exception are below 3cM, so would have been deleted if you are deleting small segments.

There is also a possibility that Alfred matches me and not Mother on some segments because he could ALSO match me on my father’s side. In my case, it’s very unlikely because my parents have very different geographic ancestry, but it’s not entirely impossible and we always need to keep that possibility in mind.

So, while I’m labeling this person, Alfred, as a match on Mom’s side, each segment always needs to be evaluated on their own merit when you’re actually evaluating the strength of matches. We’ll cover that in a later article.  For today, we’re just assigning “sides” based on parental and identified relative matches.

In case you’re wondering, I selected the colors for these segment matches utilizing stop light colors.  Green is go, a good match, red means stop, no phased match and yellow is “OK,” not green and not an alert.  Both yellow and green are genealogically relevant to you.  Red is not, at least not relative to this parent.

If a person doesn’t match BOTH you and your parent, do NOT label the side at all.

In other words, just because that person doesn’t match you and your Mom doesn’t mean they are from your Dad’s side. Yes, I know this is counter intuitive, but they could also be IBC (identical by chance) and someplace between 10 and 20% of your matches will indeed be IBC.  So we are ONLY assigning sides when we are positive.

If you have full siblings in the spreadsheet as well, (because you have only one or no parents) you will have additional colored rows. If your sibling matches you, your mother and Alfred, for example, just type Mom for your siblings “side” as well if they fall into this grouping.

I don’t have a full sibling, but here’s an example of what a match between Alfred, me, mother and my full sibling would look like.

sides sibling

If a match matches you and one of your parents, but not on any overlapping segments, I put a Mom? in the “side” column to indicate that the person does match both me and Mother, but the match needs additional inspection. This happens very rarely, but I do see it occasionally, example below.

sides parent no common segments

How Well Does This Work?

Using this technique, I was able to label a total of 7139 spreadsheet rows as Mom’s side. Remember, you’re labeling BOTH your Mom’s and your common matches (the pink and white, above,) so you can’t just sort the “side” column for “Mom” and count to see how many of your rows you labeled.

Some people only label their (white) rows with the “Mom” label. It does make sorting easier, but I label both Mom’s and mine because I want to easily see on Mom’s grouping which ones also match me.  Therefore, I label both Mom’s and my rows “Mom” when we share a common match.

Filtering vs Sorting

Sorting columns sorts the column from either highest to lowest or lowest to highest and shows you all of the data in all of your rows.  Filtering allows you to view just selected data, not displaying the rest.  Filters can be layered so that you can filter one column, then filter another column for a smaller subset.

To find just my rows that were labeled Mom, I filtered the “side” column by the cell value of Mom – which shows me all the rows with the value of Mom in the “side” column – and just those rows.  There are both pink and white rows showing.

To utilize filtering, when you only want to see a specific subset of data, click on “filter” under “Sort and Filter.”

sides filter

Now we’re going to add a second filter by clicking on the down arrows by the column header we wish to filter.

sides filter selection

I filtered the name column for Roberta Estes, which shows you only the rows with “Mom” that also have Roberta Jean Estes in the Name column.  This then gives you the total number of rows that have BOTH Mom in the “side” column and Roberta Estes in the “name” column. (Hint, when using filters, don’t forget to clear the filter after you complete your function.  Otherwise, you’re only working with the filtered set of data and you may think you’re working with the entire spreadsheet.)

That total, visible at the very bottom of the page after filtering, is 3532.

sides total assigned 2

So, of my total rows of matches, 3532 of my 16,861 rows of matches are phased to my mother’s side, or 21%. That means the balance are either my father’s side or IBC.  Given that my mother had only about one third of the matches I did, 21% isn’t bad.

Next we are going to work with our known cousins whom we match in the spreadsheet. This works whether you have parents and/or siblings in your spreadsheet or not.

A Phased Cousin Match

Even if you don’t have parents to match, you’ll hopefully have matches to known cousins, aunts, uncles, etc.. This is why we encourage genetic genealogists to test everyone they can find who will test.  (The exception is that if your aunt tests, you don’t need her children to test – but you do need her siblings.)

This is exciting, because based on where your relative falls in your tree, you can assign them to the proper side of your family.

sides phased cousin

In this case, while my father is not available for testing, I know this individual and we are second cousins, so there is no question which “side” this match is from, especially since they don’t also match my mother. If I have full siblings, they probably match AP as well and you would see their colored rows interspersed in this match too.

Go back through your spreadsheet and assign positively identified cousins and family members from your non-phased parents side.  In this case, people who I know positively are related to my father I’ll label Dad, because this person matches me on my father’s side of the tree.

Finish your entire combined master spreadsheet in this manner.

I was able to add 501 rows to my spreadsheet positively identified as my father’s side utilizing this methodology. This gives me a total of about 3% of my total spreadsheet rows.  Not nearly as high as my mother’s side, but we’re no place near finished.

You might wonder how many people I had to work with on my father’s side. I had a total of 30 positively identified individuals.  The closest to me was a 1st cousin once removed, and several that were quite distant.  I have sponsored tests for about half of these individuals. The rest, I got lucky.  I didn’t know most of them before I took up the hobby of genealogy.  Several, I met through DNA testing.

With my mother and known cousins, I was able to identify about 25% of my matches to one side or the other, even without my father’s DNA. That’s pretty remarkable, especially given that my mother has so many fewer DNA matches than me.

Lesson Summary

Here’s a summary of what we’ve accomplished.

  • Created a spreadsheet with all of your chromosome matches, with your rows colored white.
  • If you have a parent, add their chromosome matches to the same spreadsheet, after coloring all of their rows appropriately. I suggest pink for Mom and blue for Dad.
  • If you don’t have both parents, but do have full siblings, add their chromosome matches into the spreadsheet, after coloring their rows with a specific color.
  • Delete small segments if you wish.
  • Sort your spreadsheet into match order.
  • Review all of your matches and label the matches that match you and either parent with the appropriate side.
  • Review matches with known family members and assign the appropriate “parental side” to that cousin match.

Have fun!

Next Article

In the next article, we’ll create match groups and figure out who is related to whom.

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Disclosure

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