What Does “Sharing Genomes” at 23andMe Mean?

underpantsOne of the comments to my posting about 23andMe Producing a 10% Response Rate when contacting matches mentioned that the phrase “share genomes” was really an “overly dramatic, scary and inaccurate phrase.” I never really thought about that before, but that commenter is right. And fear of the unknown is likely frightening some people. Comments since then have conveyed the same concerns. Are people you “share genomes” with going to see you in your genetic underpants???

I’ve condensed another commenter’s statements below:

“I would like to know in advance how much of my info will be available to strangers. The process needs to be better explained to newbies, to reassure us about what is public and what can be kept private, while still participating in the sharing. A bridge is needed between the DNA-for-dummies introductory videos apparently made by the producers of Sesame Street, and the over-our-heads fine detail in the white paper. There’s a wide gap there.”

I agree, and so I’d like to show the basics of what “sharing genomes” means.

Big caveat and disclaimer – I don’t’ work for 23andMe nor do I have any relationship with them other than as a consumer and as a consultant who has recommended their tests in the past generally relative to health and sometimes for ancestry. I have no inside information. This is accurate, to the best of my knowledge, but 23andMe could change their website and/or internal processes at any minute and it might not be accurate anytime in the future. Furthermore, I could have missed something. If so, and if it is brought to my attention, I will update this information.

The titles for each of these sections indicate the various series of clicks you’ll need to do to access the data shown below the title.

When you choose to share your genome with someone, they will be able to see the following information about you, arranged by tab at 23and Me. Note that their tabs for Ancestry information show up in two areas:

My Results, Ancestry Overview 

Sharing genomes 1

Family and Friends, then DNA Relatives and Family Traits

sharing genomes 2

Several of these are rather frivolous.  Gene Comparison has been obsoleted/removed.  However,  there are a couple that are very important to genealogists.

My Results, Ancestry Overview, Ancestry Tools

Countries of Ancestry

Countries of ancestry shows where you match someone whose 4 grandparents were from the same location.

Sharing genomes 3

23andMe provides the following caveat about your data.

sharing genomes 4

If you elect to download the data for the person you’ve selected, it looks like this.

sharing genomes 4.1

As you can see, many people remain anonymous. This is a list of the people who match this person selected, and the segments that are listed as entirely Spanish, or UK, for example. This could be useful to you if you find the names of some of your matches, or if you would decide to include this information in your matching spreadsheet. I don’t utilize this information in my spreadsheet, because I don’t feel that grandparents living in one location is terribly useful, although at least one of my matches is utilizing this information. This does not mean that your ancestors or the DNA you inherited in this location (on half of the chromosome in question) is from this location, but it could provide a clue. I can say without a doubt that in the case of some of the Netherlands segments, those did come from my mother’s Dutch lines. Please note that these measurements are in mega-base pairs, NOT in centiMorgans, and will not match up with your spreadsheet segments exactly for that reason.

My Results, Ancestry Overview, Ancestry Tools

Family Inheritance: Advanced (FIA)

This is the primary tool utilized by genealogists.

Utilizing the FIA tool, you can see how up to three different people’s DNA compares against yours. Below, my half-sister’s granddaughter on my father’s side (blue) is compared with my first cousin (once removed) on my mother’s side (green). Of note, they both share with me on some of the same segments, specifically chromosome 5, 7, 11 and 17. That’s not unexpected, because both halves of my chromosomes are showing here, Moms and Dads.

Sharing genomes 5

To see if they actually do match each other, or if their matches are to me on Mom’s and Dad’s side, separately, we check to see if they also match each other.

They do, on one segment, suggesting that they may share a common ancestor that is likely not shared with me. How do we know this? Because their match to each other is on chromosome 19, and their matches in common to me are not on chromosome 19. This means that their matches to me on common chromosomes are simply because one is matching me on Mom’s side and one on Dad’s. Their match to each other on chromosome 19 would need to be investigated separately. As it turns out, I did notice a surname in common in both of their trees, a line that is not shared with me.

Sharing genomes 6

From the above screen, you can’t see segment start and stop numbers, but utilizing the www.dnagedcom.com utility, below, you can download your matches segments to each other by entering your name in the profile (exactly including capital letters) and the person you want to see in the FIA match field. This means you will see all of the matches of your matches to each other. You will NOT see matches for this person outside of those they match in common with you and only for those who are sharing their genomes. You will NOT see anyone who is not sharing genomes.

sharing genomes 7

My cousin’s downloaded match file looks like this, minus the green shading, and plus full names, which I’ve redacted.

Sharing genomes 8

This is extremely useful because it allows me to see exactly where on the segments that my matches match each other. These are shaded green. This allows me to compare exactly where they match each other, and me. If they match each other, and me, on the same segment, that indicates that we share a common ancestor at that location. So, in this case, my cousin, whose FIA record this is, matches me, William and Diana on a common segment of chromosome 4. She matches me, Sean and Sheila on 5. They don’t have to match exactly, just on some overlapping piece.

Note that this tells us that the segments that I colored green are true matches, as my cousin matches both me and these other individuals at these locations, indicating we share a common ancestor. In some cases, based on genealogy or knowing the person in question, I can tell you exactly from looking at the common matches which lines the people who match come from. This is the goal and the power of chromosome mapping.

My Results, Ancestry Overview, Ancestry Tools

Global Similarity Map

You can see the Global Similarity Map of the people you are sharing genomes with.

sharing genomes 9

My Results, Ancestry Overview, Ancestry Tools

Neanderthal Ancestry

Your matches can, gasp, see your percentage of Neanderthal ancestry.

Sharing genomes 10

Maternal Line, Paternal Line and DNA Relatives Page

People with whom you share can see your haplogroup on both the maternal and paternal line, page (under the My Results, Ancestry Overview tab,) and they can also see it on the DNA Relatives main match page (under the Family and Friends tab.) Mine is shown below, but if I were a male, it would also include the Y haplogroup. One useful feature on the Maternal and Paternal pages is that you can see your matches sorted by haplogroup which in some cases, especially with a rare haplogroup, maybe a clue as to how you are related, either matrilineally or patrilineally.

Sharing genomes 11

Family and Friends, Family Traits

You can see if you match someone by selecting between traits, such as bitter taste, circadian rhythm, endurance, etc. to see if you share any of the genes for a specific trait such as bitter tasting ability, circadian rhythm, endurance, female fertility, immune system compatibility, non-bitter tasting, pigmentation and weight/body mass index or any set of genes you enter specifically by number.

This shows me compared to my sister’s granddaughter for weight/BMI.

Sharing genomes 12

23andMe Discusses Genome Sharing

What does 23andMe have to say about genome sharing? Here are links

How does genome sharing work? https://customercare.23andme.com/entries/21242872

Learn more and what should I know? https://23andme.zendesk.com/entries/21251933

Family and Friends, Manage Sharing

You can see who you are sharing with. I never share health reports, although I would consider it if someone had a good reason for asking.

Sharing genomes 14

You can manage your sharing by clicking on the green “share your genome” button in the upper right hand corner or by simply accepting a share request.

In Summary

I hope this quick spin-through of “sharing genomes” at 23andMe has been helpful. There is nothing frightening about sharing your genome at 23andMe and if you want to be able to make a sound genealogical connection, it’s necessary. You’re not sharing your entire genome, or your raw data, only selected parts where you match people with whom you are related.

The most frightening part of genetic genealogy is if you discover that you’re related to someone you wish you weren’t, or you’re not related to someone you thought you were. But if you’re playing in the genealogy field, especially the genetic genealogy field, that is a constant consideration and one we’re all aware of.

Happy Ancestor Hunting through genome sharing.

Haplogroup Comparisons Between Family Tree DNA and 23andMe

Recently, I’ve received a number of questions about comparing people and haplogroups between 23andMe and Family Tree DNA.  I can tell by the questions that a significant amount of confusion exists about the two, so I’d like to talk about both.  In you need a review of “What is a Haplogroup?”, click here.

Haplogroup information and comparisons between Family Tree DNA information and that at 23andMe is not apples and apples.  In essence, the haplogroups are not calculated in the same way, and the data at Family Tree DNA is much more extensive.  Understanding the differences is key to comparing and understanding results. Unfortunately, I think a lot of misinterpretation is happening due to misunderstanding of the essential elements of what each company offers, and what it means.

There are two basic kinds of tests to establish haplogroups, and a third way to estimate.

Let’s talk about mitochondrial DNA first.

Mitochondrial DNA

You have a very large jar of jellybeans.  This jar is your mitochondrial DNA.

jellybeans

In your jar, there are 16,569 mitochondrial DNA locations, or jellybeans, more or less.  Sometimes the jelly bean counter slips up and adds an extra jellybean when filling the jar, called an insertion, and sometimes they omit one, called a deletion.

Your jellybeans come in 4 colors/flavors, coincidentally, the same colors as the 4 DNA nucleotides that make up our double helix segments.  T for tangerine, A for apricot, C for chocolate and G for grape.

Each of the 16,569 jellybeans has its own location in the jar.  So, in the position of address 1, an apricot jellybean is always found there.  If the jellybean jar filler makes a mistake, and puts a grape jellybean there instead, that is called a mutation.  Mistakes do happen – and so do mutations.  In fact, we count on them.  Without mutations, genetic genealogy would be impossible because we would all be exactly the same.

When you purchase a mitochondrial DNA test from Family Tree DNA, you have in the past been able to purchase one of three mitochondrial testing levels.  Today, on the website, I see only the full sequence test for $199, which is a great value.

However, regardless of whether you purchase the full mitochondrial sequence test today, which tests all of your 16,569 locations, or the earlier HVR1 or HVR1+HVR2 tests, which tested a subset of about 10% of those locations called the HyperVariable Region, Family Tree DNA looks at each individual location and sees what kind of a jellybean is lodged there.  In position 1, if they find the normal apricot jellybean, they move on to position 2.  If they find any other kind of jellybean in position 1, other than apricot, which is supposed to be there, they record it as a mutation and record whether the mutation is a T,C or G.  So, Family Tree DNA reads every one of your mitochondrial DNA addresses individually.

Because they do read them individually, they can also discover insertions, where extra DNA is inserted, deletions, where some DNA dropped out of line, and an unusual conditions called a heteroplasmy which is a mutation in process where you carry some of two kinds of jellybean in that location – kind of a half and half 2 flavor jellybean.  We’ll talk about heteroplasmic mutations another time.

So, at Family Tree DNA, the results you see are actually what you carry at each of your individual 16,569 mitochondrial addresses.  Your results, an example shown below, are the mutations that were found.  “Normal” is not shown.  The letter following the location number, 16069T, for example, is the mutation found in that location.  In this case, normal is C.  In the RSRS model of showing mitochondrial DNA mutations, this location/mutation combination would be written as C16069T so that you can immediately see what is normal and then the mutated state.  You can click on the images to enlarge.

ftdna mito results

Family Tree DNA gives you the option to see your results either in the traditional CRS (Cambridge Reference Sequence) model, above, or the more current Reconstructed Sapiens Reference Sequence (RSRS) model.  I am showing the CRS version because that is the version utilized by 23andMe and I want to compare apples and apples.  You can read about the difference between the two versions here.

Defining Haplogroups

Haplogroups are defined by specific mutations at certain addresses.

For example, the following mutations, cumulatively, define haplogroup J1c2f.  Each branch is defined by its own mutation(s).

Haplogroup Required Mutations  
J C295T, T489C, A10398G!,   A12612G, G13708A, C16069T
J1 C462T, G3010A
J1c G185A, G228A,   T14798C
J1c2 A188G
J1c2f G9055A

You can see, below, that these results, shown above, do carry these mutations, which is how this individual was assigned to haplogroup J1c2f. You can read about how haplogroups are defined here.

ftdna J1c2f mutations

At 23andMe, they use chip based technology that scans only specifically programmed locations for specific values.  So, they would look at only the locations that would be haplogroup producing, and only those locations.  Better yet if there is one location that is utilized in haplogroup J1c2f that is predictive of ONLY J1c2f, they would select and use that location.

This same individual at 23andMe is classified as haplogroup J1c2, not J1c2f.  This could be a function of two things.  First, the probes might not cover that final location, 9055, and second, 23andMe may not be utilizing the same version of the mitochondrial haplotree as Family Tree DNA.

By clicking on the 23andMe option for “Ancestry Tools,” then “Haplogroup Tree Mutation Mapper,” you can see which mutations were tested with the probes to determine a haplogroup assignment.  23andMe information for this haplogroup is shown below.  This is not personal information, meaning it is not specific to you, except that you know you have mutations at these locations based on the fact that they have assigned you to the specific haplogroup defined by these mutations.  What 23andMe is showing in their chart is the ancestral value, which is the value you DON’T have.  So your jelly bean is not chocolate at location 295, it’s tangerine, apricot or grape.

Notice that 23andMe does not test for J1c2f.  In addition, 23andMe cannot pick up on insertions, deletions or heteroplasmies.  Normally, since they aren’t reading each one of your locations and providing you with that report, missing insertions and deletions doesn’t affect anything, BUT, if a deletion or insertion is haplogroup defining, they will miss this call.  Haplogroup K comes to mind.

J defining mutations

J1 defining mutations

J1c defining mutations

23andMe never looks at any locations in the jelly bean jar other than the ones to assign a haplogroup, in this case,17 locations.  Family Tree DNA reads every jelly bean in the jelly bean jar, all 16,569.  Different technology, different results.  You also receive your haplogroup at 23andMe as part of a $99 package, but of course the individual reading of your mitochondrial DNA at Family Tree DNA is more accurate.  Which is best for you depends on your personal testing goals, so long as you accurately understand the differences and therefore how to interpret results.  A haplogroup match does not mean you’re a genealogy match.  More than one person has told me that they are haplogroup J1c, for example, at Family Tree DNA and they match someone at 23andMe on the same haplogroup, so they KNOW they have a common ancestor in the past few generations.  That’s an incorrect interpretation.  Let’s take a look at why.

Matches Between the Two

23andMe provides the tester with a list of the people who match them at the haplogroup level.  Most people don’t actually find this information, because it is buried on the “My Results,” then “Maternal Line” page, then scrolling down until your haplogroup is displayed on the right hand side with a box around it.

Those who do find this are confused because they interpret this to mean they are a match, as in a genealogical match, like at Family Tree DNA, or like when you match someone at either company autosomally.  This is NOT the case.

For example, other than known family members, this individual matches two other people classified as haplogroup J1c2.  How close of a match is this really?  How long ago do they share a common ancestor?

Taking a look at Doron Behar’s paper, “A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root,” in the supplemental material we find that haplogroup J1c2 was born about 9762 years ago with a variance of plus or minus about 2010 years, so sometime between 7,752 and 11,772 years ago.  This means that these people are related sometime in the past, roughly, 10,000 years – maybe as little as 7000 years ago.  This is absolutely NOT the same as matching your individual 16,569 markers at Family Tree DNA.  Haplogroup matching only means you share a common ancestor many thousands of years ago.

For people who match each other on their individual mitochondrial DNA location markers, their haplotype, Family Tree DNA provides the following information in their FAQ:

    • Matching on HVR1 means that you have a 50% chance of sharing a common maternal ancestor within the last fifty-two generations. That is about 1,300 years.
    • Matching on HVR1 and HVR2 means that you have a 50% chance of sharing a common maternal ancestor within the last twenty-eight generations. That is about 700 years.
    • Matching exactly on the Mitochondrial DNA Full Sequence test brings your matches into more recent times. It means that you have a 50% chance of sharing a common maternal ancestor within the last 5 generations. That is about 125 years.

I actually think these numbers are a bit generous, especially on the full sequence.  We all know that obtaining mitochondrial DNA matches that we can trace are more difficult than with the Y chromosome matches.  Of course, the surname changing in mitochondrial lines every generation doesn’t help one bit and often causes us to “lose” maternal lines before we “lose” paternal lines.

Autosomal and Haplogroups, Together

As long as we’re mythbusting here – I want to make one other point.  I have heard people say, more than once, that an autosomal match isn’t valid “because the haplogroups don’t match.”  Of course, this tells me immediately that someone doesn’t understand either autosomal matching, which covers all of your ancestral lines, or haplogroups, which cover ONLY either your matrilineal, meaning mitochondrial, or patrilineal, meaning Y DNA, line.  Now, if you match autosomally AND share a common haplogroup as well, at 23andMe, that might be a hint of where to look for a common ancestor.  But it’s only a hint.

At Family Tree DNA, it’s more than a hint.  You can tell for sure by selecting the “Advanced Matching” option under Y-DNA, mtDNA or Family Finder and selecting the options for both Family Finder (autosomal) and the other type of DNA you are inquiring about.  The results of this query tell you if your markers for both of these tests (or whatever tests are selected) match with any individuals on your match list.

Advanced match options

Hint – for mitochondrial DNA, I never select “full sequence” or “all mtDNA” because I don’t want to miss someone who has only tested at the HVR1 level and also matches me autosomally.  I tend to try several combinations to make sure I cover every possibility, especially given that you may match someone at the full sequence level, which allows for mutations, that you don’t match at the HVR1 level.  Same situation for Y DNA as well.  Also note that you need to answer “yes” to “Show only people I match on all selected tests.”

Y-DNA at 23andMe

Y-DNA works pretty much the same at 23andMe as mitochondrial meaning they probe certain haplogroup-defining locations.  They do utilize a different Y tree than Family Tree DNA, so the haplogroup names may be somewhat different, but will still be in the same base haplogroup.  Like mitochondrial DNA, by utilizing the haplogroup mapper, you can see which probes are utilized to determine the haplogroup.  The normal SNP name is given directly after the rs number.  The rs number is the address of the DNA on the chromosome.  Y mutations are a bit different than the display for mitochondrial DNA.  While mitochondrial DNA at 23andMe shows you only the normal value, for Y DNA, they show you both the normal, or ancestral, value and the derived, or current, value as well.  So at SNP P44, grape is normal and you have apricot if you’ve been assigned to haplogroup C3.

C3 defining mutations

As we are all aware, many new haplogroups have been defined in the past several months, and continue to be discovered via the results of the Big Y and Full Y test results which are being returned on a daily basis.  Because 23andMe does not have the ability to change their probes without burning an entirely new chip, updates will not happen often.  In fact, their new V4 chip just introduced in December actually reduced the number of probes from 967,000 to 602,000, although CeCe Moore reported that the number of mtDNA and Y probes increased.

By way of comparison, the ISOGG tree is shown below.  Very recently C3 was renamed to C2, which isn’t really the point here.  You can see just how many haplogroups really exist below C3/C2 defined by SNP M217.  And if you think this is a lot, you should see haplogroup R – it goes on for days and days!

ISOGG C3-C2 cropped

How long ago do you share a common ancestor with that other person at 23andMe who is also assigned to haplogroup C3?  Well, we don’t have a handy dandy reference chart for Y DNA like we do for mitochondrial – partly because it’s a constantly moving target, but haplogroup C3 is about 12,000 years old, plus or minus about 5,000 years, and is found on both sides of the Bering Strait.  It is found in indigenous Native American populations along with Siberians and in some frequency, throughout all of Asia and in low frequencies, into Europe.

How do you find out more about your haplogroup, or if you really do match that other person who is C3?  Test at Family Tree DNA.  23andMe is not in the business of testing individual markers.  Their business focus is autosomal DNA and it’s various applications, medical and genealogical, and that’s it.

Y-DNA at Family Tree DNA

At Family Tree DNA, you can test STR markers at 12, 25, 37, 67 and 111 marker levels.  Most people, today, begin with either 37 or 67 markers.

Of course, you receive your results in several ways at Family Tree DNA, Haplogroup Origins, Ancestral Origins, Matches Maps and Migration Maps, but what most people are most interested in are the individual matches to other people.  These STR markers are great for genealogical matching.  You can read about the difference between STR and SNP markers here.

When you take the Y test, Family Tree DNA also provides you with an estimated haplogroup.  That estimate has proven to be very accurate over the years.  They only estimate your haplogroup if you have a proven match to someone who has been SNP tested. Of course it’s not a deep haplogroup – in haplogroup R1b it will be something like R1b1a2.  So, while it’s not deep, it’s free and it’s accurate.  If they can’t predict your haplogroup using that criteria, they will test you for free.  It’s called their SNP assurance program and it has been in place for many years.  This is normally only necessary for unusual DNA, but, as a project administrator, I still see backbone tests being performed from time to time.

If you want to purchase SNP tests, in various formats, you can confirm your haplogroup and order deeper testing.

You can order individual SNP markers for about $39 each and do selective testing.  On the screen below you can see the SNPs available to purchase for haplogroup C3 a la carte.

FTDNA C3 SNPs

You can order the Geno 2.0 test for $199 and obtain a large number of SNPs tested, over 12,000, for the all-inclusive price.  New SNPs discovered since the release of their chip in July of 2012 won’t be included either, but you can then order those a la carte if you wish.

Or you can go all out and order the new Big Y for $695 where all of your Y jellybeans, all 13.5 million of them in your Y DNA jar are individually looked at and evaluated.  People who choose this new test are compared against a data base of more than 36,000 known SNPs and each person receives a list of “novel variants” which means individual SNPs never before discovered and not documented in the SNP data base of 36,000.

Don’t know which path to take?  I would suggest that you talk to the haplogroup project administrator for the haplogroup you fall into.  Need to know how to determine which project to join, and how to join? Click here.  Haplogroup project administrators are generally very knowledgeable and helpful.  Many of them are spearheading research into their haplogroup of interest and their knowledge of that haplogroup exceeds that of anyone else.  Of course you can also contact Family Tree DNA and ask for assistance, you can purchase a Quick Consult from me, and you can read this article about comparing your options.

23 Ways To Be a PITA

PITANo, not PETA, the People for the Ethical Treatment of Animals, but PITA – Pain In The Arm….yes….arm…what are you thinking???

For most people, being a PITA doesn’t come naturally….so you might need some help knowing how to be one, or perhaps perfecting your PITA skills.  Yes, in case you’re wondering….my tongue is firmly implanted in my cheek.

For genetic genealogists, there are special ways to be a PITA.  Let me share some of these with you, just so you can fine tune and add to your PITA skills.

First and maybe the best ways to be a PITA, right off the bat.

1. Send e-mails with no subject or punctuation and an indecipherable topic, especially to someone you’ve never communicated with before.  Here’s an example.  You can just copy and paste this and send it to anyone you want to irritate or confuse.

“i would love to have any information you could give me…..thanks…..”

I so want to send this person something about penile implants.  Is this wrong?

2. Send e-mails with no capitals or punctuations.  This is always a wonderful way to impress people.

i just wanted to let you know that i have no idea how to type or how to use the period or comma keys or how to use the shift button i’m also using the fact that i’m using my phone as an excuse not to use punctuation however I can manage to type half of my life story for you to try to decipher so get out your special decoder ring

3. BETTER YET, SEND THE ENTIRE MESSAGE, INCLUDING SEVERAL PAGES OF YOUR ANCESTORS NAMES WITH NO DATES OR OTHER IDENTIFYING INFORMATION IN ALL CAPITALS.  THEN ASK FOR ANY INFORMATION THAT PERSON MIGHT HAVE ABOUT THOSE ANCESTORS.  THIS IS ESPECIALLY USEFUL WHEN FIRST INTRODUCING YOURSELF AND LETS YOUR NEW CONTACT KNOW JUST HOW IMPORTANT THEY ARE AND HOW MUCH FUN IT’S GOING TO BE TO COMMUNICATE WITH YOU.

4. When a match asks you for genealogy information, just send them a link to your Ancestry.com tree.  You can then sit back and laugh, knowing that they have no idea where to search in your 35,723 people for a common ancestor without looking for every surname they have.  Plus, you have the added benefit that Ancestry will help you be a PITA by attaching your tree to their account like a giant kudzu vine that they can’t disentangle without knowing the secret handshake.

5. When a match asks you for genealogy information, never, ever send them something actually useful, like a pedigree chart with an index.  Instead send them rambling e-mails with disconnected tidbits from both sides of your family, or that link to your Ancestry tree.  Go to sleep then, knowing they will be up all night trying to figure this out.

6. Ask for, or better yet, demand free consulting.  Select someone at random (not me please, I already receive more than my share – 17 yesterday alone) and send them a rambling stream-of-consciousness e-mail several pages long.  At the end, tell them that you can’t afford to pay anything, but ask if they would tell you “what they think.”  Before sending these to anyone in the genetic genealogy community, send several to other professionals, physicians or lawyers in your community and see how that works out?

Now, if someone is a project volunteer, that’s a bit different.  They still don’t “owe” you free consulting, but they have set themselves forth as a volunteer resource.  Still, try to be respectful of their time and be brief and concise in your requests.

In other words, the 21 page e-mail I received this week from Person Unknown demanding that I, as a project administrator, figure out how the “requester” was related to three people in the large Cumberland Gap project (also persons unknown) was, well, ahem, a bit over the top, to put it mildly.  No, I confess, I did not read all 21 pages and the only reason I know it WAS 21 pages long is because I wanted to use it as a bad example.  If that was your e-mail and I’ve just offended you, well, I’m sorry you’re offended, but that is not the way to win friends and influence people, nor to get your questions answers or your problems solved.  It is, however, a great way to be a PITA.  In fact, you win this week’s PITA award!

Here’s an example of a reasonable, concise question from my blog:

“Thanks for that explanation, I needed that information. Still would like to know what a “back mutation” is.”

And the answer:

“A back mutation is when a mutations happens, like from A to C, and then the reverse happens, a mutation from C to A. It initially looks like no mutation happened, unless you are aware of the intermediate step and that two mutations actually happened.”

There’s a big difference between a simple one or two line general DNA question and a multi-page personal epistle that the receiver has to read three times and make charts to even begin to unravel or understand, so, to be a PITA – always make yourself annoying and then you can wonder why you never receive replies from people.  Then complain about not receiving replies.

Oh, and if you do write to a project administrator, never, ever tell them how or why you are writing specifically to them – it’s much more fun to leave them guessing.  The sender of the 21 page epistle did not SAY it was the Cumberland Gap project – they left that for me to decipher.

7. Skim articles, don’t click on the links, and then ask questions of the author that would have been answered if you had clicked on the links they provided in the first place.  They love receiving several of these e-mails every day!

Now, if you have DNA tested at any of the three major testing companies, there special ways for you to be a PITA with each one.  Let me give you some fresh ideas.

At Family Tree DNA

8. Join a DNA project, any project.  Then, when the administrator sends you a welcome message, introducing themselves and asking for genealogy information, send them a nasty note.  Here’s one I received recently.  You can just use it.

“Who the hell are you and why are you contacting me.  Don’t ever contact me again.”

9. Family Tree DNA does you the very large favor of providing you with the e-mail addresses of your contacts instead of forcing you to go through a message system like at 23andMe and Ancestry.

When sending an e-mail to someone you match, be sure to never include the name of the person you match, or what kind of a test you took that matches.  This will confuse them and make them really want to answer your inquiry.  Many people manage test kits for several people and if you don’t put the name of the person you match in your e-mail, they will probably think it’s their kit, and then they will either spend a lot of time looking for matches and/or putting together genealogy info to send to you that is not useful.  Then, after you receive the info, tell them you’re sorry, but the match was to a different person.  That will truly endear you to them.

10. Don’t ever update your e-mail address…then complain online and loudly about how you never receive contacts from either your project administrator or your contacts/matches.

11. Don’t upload your GEDCOM file either, because someone might accidentally discover a common surname match or a common ancestor, and that would be just awful.  It would also provide Family Tree DNA with the information to bold matching surnames on your autosomal match list for you, AND you’d get a $10 coupon…all of which would be just terrible.

12. Volunteer to be a project administrator, then do nothing at all.  Leave your project entirely ungrouped, and refuse any assistance.  In this case, you really don’t have to DO anything to be a PITA.

Better yet, create an off-site (non-FTDNA) website instead of using the one at Family Tree DNA and remove any information that could be useful to someone searching for their ancestral line.  Here’s an example.

Private project no useful info

Don’t want to create your own website?  Well, you can be almost as large a PITA by using the Family Tree DNA page and simply disabling anything useful, like, you know, most distant ancestor.  That way people can see that there is a project and their line MIGHT be hidden in there, but they have no way to find out other than contacting you.  Then, don’t answer, of course.

ftdna project no names

At 23andMe

13. Give yourself a really innovative “screen name,” like, say “Your cousin” or “3rd cousin” or better yet, “My Mother.”  That way when you send contact requests or sharing requests to people, it looks like it is coming from their mother…and if their mother has already passed over…well…let’s just say your contact request could be really startling.  Worse yet, if that person matches two people who are equally as creative and both named themselves “My Mother,” how will they ever tell you apart???  And can you really have two mothers?  OMG, I feel an identity crisis coming on…

14. Tell your contact that you are really interested in genealogy, provide a little bit of genealogy info, just a couple tidbits, maybe a juicy morsel, but then refuse to share your DNA.

15.  Don’t provide any surname or location information.  That might give someone a clue as to how you connect – so don’t ever do that.

16.  I’d tell you to never upload your GEDCOM file, or create one, but you can actually be a larger PITA by uploading your file at 23andMe, because their file reader interface works so poorly that your match will be more frustrated trying to read the file than by not finding one at all.  So you can be a PITA whether you upload your file or not.  How’s that for good luck!

17.  Don’t ever reply to contact or sharing requests.  I know this one is already quite popular.  About 90% of the people there already do this, so you’ll be in good company.  If people at 23andMe aren’t interested in genealogy, there is an opt-out, but don’t opt out because you can be much more of a PITA by leaving yourself in the genealogy pool but never replying to anyone, especially close matches.  Drives them crazy!

At Ancestry

18. First and foremost, never, ever reply to messages.  I know that this one is very popular, because many of my DNA matches, including my closest match at Ancestry has implemented this scheme.  She, I assume, due to the name (unless I’m related to the boy named Sue) and I share a common great-grandfather.  In this case, I have photos she might really like to have.  Too bad she is being a PITA.

19. Make your tree private, AND never reply to requests.  This is the ultimate tease, because your match KNOWS the information is there, right there, hiding just out of reach, and can’t get to it.

20. Copy and paste several trees together because, after all, the names match and, hello, it wouldn’t BE on Ancestry if it wasn’t RIGHT.  Right?  You can then scare the bejesus out of someone when they discover that their non-Mormon grandfather had 7 wives and 35 kids….all while married to their grandmother.  That’s always fun.  Then, when they frantically contact you to ask about it, don’t even think about replying to that message.

21. Insist that because you and your Ancestry DNA match have a shakey leaf and a common ancestor in your tree, that you KNOW that’s your DNA match because Ancestry SAYS SO.  When your match tries to explain that connection might be incorrect, may not be your DNA match and that there is no way to prove it, at least not without utilizing tools from either GedMatch or Family Tree DNA, don’t reply to them anymore.  That will certainly solve the problem!

22.  Send random people invitations to your Ancestry tree – and be positive your tree name has absolutely no identifying words in it.  Like the one I received recently, for example, named “A Global Tree of Life.”  Yep, I can tell you right away who sent that to me and why!!!

23. Oh yes, and in true PITA-esque fashion, never, ever say “Thank you,” to anyone, ever, for anything.  Thank you is such an easy thing to say and it makes the person on the receiving end feel good about whatever it was they did for you – even if was “just” answering your question.  So don’t slip up and do this!  Otherwise, you’ll certainly be thrown out of the PITA Club!

Thank you collage

Added PITAs

24. Instead of being grateful for free things, like blogs and webpages, and simply unsubscribing or ignoring them if you don’t like them, make nasty comments.  That will certainly confirm your PITA membership and make the person providing the free content feel warm and fuzzy about the time they invest.

“How about I unsubscribe to your boring emails about your family I have been getting the last year. Ms PITA.”

 

What If You Die?

coffinWell, it’s not exactly a what-if question, it’s a given.  You’re going to.  The only real question is when, and will you be prepared?

By prepared, I’m not talking about your will, I’m talking about your DNA.

The unspeakable happened this past weekend.  A long time researcher and close friend, Aleda, died, rather unexpectedly.  She has been chronically ill for some time, but not critically.  On Saturday, she read my blog, worked with her research group on the Autosomal DNA Segment Analyzer and ordered Emily’s book.  Then, in the afternoon, she said she didn’t feel well and got into her chair to take a nap.  Nothing unusual about that.  Aleda didn’t feel well a lot, but she persevered anyway, always helping and guiding her research group.  But this time was different.  Aleda was gone.

Her research group is wandering around like a group of lost souls.  It’s like someone shot a hole through the middle of all of us.  This isn’t a large well organized group with an official structure, but a small group of closely and not so closely related researchers trying to figure out their DNA and genealogy connections.

If you are a significant contributor, you will be sorely missed.  If you are reading this, and have had your DNA tested, you are one of the contributors.

The research group members are already asking, “What next?  How do we access the DNA records of the people Aleda had tested?”  Good question.  Let’s talk about preparing for the inevitable.

Aleda had given the kit passwords to a friend, who is now so upset she can’t find them.  As the project administrator of one of the projects that includes one of Aleda’s family member’s kits, I can see some of the information.

E-Mail

I can see that Aleda set up a special DNA e-mail address which I’m presuming she used for all of the kits.  Unfortunately, there is no alternate e-mail address.

When Family Tree DNA, and virtually all the companies, do a password reset, they send the password information to the e-mail address on file.

Does anyone, other than Aleda, have the password to that e-mail account?

Project administrators cannot change primary e-mail addresses.  Only the kit owner can do that.

If you change your password to your e-mail account, you’ll need to remember to provide the new password to your trusted other as well.

Passwords

If you share your password with someone, that’s fine, but if they can’t find it, or if you change it and don’t tell them, that won’t be helpful.  You might want to add their e-mail as an alternate.  You might want to provide this information to multiple people, just in case your chosen person predeceases you, or some other unfortunate situation exists, like a fire, system crash or losing the passwords.

At 23andMe, to download a raw data file, a password isn’t enough.  You also have to know the answer to the secret question.

Beneficiary Information

Family Tree DNA goes one step further and provides people with a beneficiary form for situations just like this.

Unfortunately, Aleda’s family member’s form is blank, and she protected his information by changing the setting to prevent project administrators from completing this form.

beneficiary form

Covering all the Bases

Don’t forget about 3rd party sites like GedMatch where you may also be registered.

What to do?

1. Family Tree DNA is the only company to provide the option of beneficiary information.  Take advantage of this and complete the form.  It’s only 3 lines – name, phone and e-mail of your beneficiary.  You can find it under the “My Account” tab on the blue/black bar at the top of your personal page.

beneficiary dropdown

2. Add an alternate e-mail address.

3. Provide password and e-mail password information to a trusted other, and maybe a few trusted others.

4. Remember to notify password holders when you change passwords to either e-mail or DNA kits.

5. If you are a project administrator, try your best to find a co-administrator and share information, such as genealogy provided by participants.

6. Provide a notification list for your family that includes important genealogy and DNA contacts, including Family Tree DNA if you are a project administrator.  Many times I’ve received an e-mail from someone’s account with their name as the subject.  I’ve learned to cringe when I see them, because I know what’s coming…but at least the family has taken the trouble to notify those of us who communicate electronically with that person instead of leaving us to wonder forever what happened.

7. Preparing for the inevitable doesn’t just apply to DNA testing, but to all aspects of online life.  Think about Facebook, for example.  My brother died 2 years ago, today, and no one has his password.  We post to his page from time to time, but like a ghost ship, his Facebook account will sail off into the indefinite captainless future.

That Unruly X….Chromosome That Is

Iceberg

Something is wrong with the X chromosome.  More specifically, something is amiss with trying to use it, the way we normally use recombinant chromosomes for genealogy.  In short, there’s a problem.

If you don’t understand how the X chromosome recombines and is passed from generation to generation, now would be a good time to read my article, “X Marks the Spot” about how this works.  You’ll need this basic information to understand what I’m about to discuss.

The first hint of this “problem” is apparent in Jim Owston’s “Phasing the X Chromosome” article.  Jim’s interest in phasing his X, or figuring out where it came from genealogically, was spurred by his lack of X matches with his brothers.  This is noteworthy, because men don’t inherit any X from their father, so Jim’s failure to share much of his X with his brothers meant that he had inherited most of his X from just one of his mother’s parents, and his brothers inherited theirs from the other parent.  Utilizing cousins, Jim was able to further phase his X, meaning to attribute portions to the various grandparents from whence it came.  After doing this work, Jim said the following”

“Since I can only confirm the originating grandparent of 51% my X-DNA, I tend to believe (but cannot confirm at the present) that my X-chromosome may be an exact copy of my mother’s inherited X from her mother. If this is the case, I would not have inherited any X-DNA from my grandfather. This would also indicate that my brother Chuck’s X-DNA is 97% from our grandfather and only 3% from our grandmother. My brother John would then have 77% of his X-DNA from our grandfather and 23% from our grandmother.”

As a genetic genealogist, at the time Jim wrote this piece, I was most interested in the fact that he had phased or attributed the pieces of the X to specific ancestors and the process he used to do that.  I found the very skewed inheritance “interesting” but basically attributed it to an anomaly.  It now appears that this is not an anomaly.  It was, instead the tip of the iceberg and we didn’t recognize it as such.  Let’s look at what we would normally expect.

Recombination

The X chromosome does recombine when it can, or at least has the capacity to do so.  This means that a female who receives an X from both her father and mother receives a recombined X from her mother, but receives an X that is not recombined from her father.  That is because her father only receives one X, from his mother, so he has nothing to recombine with.  In the mother, the X recombines “in the normal way” meaning that parts of both her mother’s and her father’s X are given to her children, or at least that opportunity exists.  If you’re beginning to see some “weasel words” here or “hedge betting,” that’s because we’ve discovered that things aren’t always what they seem or could be.

The 50% Rule

In the statistical world of DNA, on the average, we believe that each generation receives roughly half of the DNA of the generations before them.  We know that each child absolutely receives 50% of the DNA of both parents, but how the grandparents DNA is divided up into that 50% that goes to each offspring differs.  It may not be 50%.  I am in the process of doing a generational inheritance study, which I will publish soon, which discusses this as a whole.

However, let’s use the 50% rule here, because it’s all we have and it’s what we’ve been working with forever.

In a normal autosomal, meaning non-X, situation, every generation provides to the current generation the following approximate % of DNA:

Autosomal % chart

Please note Blaine Bettinger’s X maternal inheritance chart percentages from his “More X-Chromosome Charts” article, and used with his kind permission in the X Marks the Spot article.

Blaine's maternal X %

I’m enlarging the inheritance percentage portion so you can see it better.

Blaine's maternal X % cropped

Taking a look at these percentages, it becomes evident that we cannot utilize the normal predictive methods of saying that if we share a certain percentage of DNA with an individual, then we are most likely a specific relationship.  This is because the percentage of X chromosome inherited varies based on the inheritance path, since men don’t receive an X from their fathers.  Not only does this mean that you receive no X from many ancestors, you receive a different percentage of the X from your maternal grandmother, 25%, because your mother inherited an X from both of her parents, versus from your paternal grandmother, 50%, because your father inherited an X from only his mother.

The Genetic Kinship chart, below, from the ISOGG wiki, is the “Bible” that we use in terms of estimating relationships.  It doesn’t work for the X.

Mapping cousin chart

Let’s look at the normal autosomal inheritance model as compared to the maternal X chart fan chart percentages, above, and similar calculations for the paternal side.  Remember, the Maternal Only column applies only to men, because in the very first generation, men’s and women’s inheritance percentages diverge.  Men receive 100% of their X from their mothers, while women receive 50% from each parent.

Generational X %s

Recombination – The Next Problem

The genetic genealogy community has been hounding Family Tree DNA incessantly to add the X chromosome matching into their Family Finder matching calculations.

On January 2, 2014, they did exactly that.  What’s that old saying, “Be careful what you ask for….”  Well, we got it, but “it” doesn’t seem to be providing us with exactly what we expected.

First, there were many reports of women having many more matches than men.  That’s to be expected at some level because women have so many more ancestors in the “mix,” especially when matching other women.

23andMe takes this unique mixture into consideration, or at least attempts to compensate for it at some level.  I’m not sure if this is a good or bad thing or if it’s useful, truthfully.  While their normal autosomal SNP matching threshold is 7cM and 700 matching SNPs within that segment, for X, their thresholds are:

  • Male matched to male – 1cM/200 SNPs
  • Male matched to female – 6cM/600 SNPs
  • Female matched to female – 6cM/1200 SNPs

Family Tree DNA does not use the X exclusively for matching.  This means that if you match someone utilizing their normal autosomal matching criteria of approximately 7.7cM and 500 SNPs, and you match them on the X chromosome, they will report your X as matching.  If you don’t match someone on any chromosome except the X, you will not be reported as a match.

The X matching criteria at Family Tree DNA is:

  • 1cM/500 SNPs

However, matching isn’t all of the story.

The X appears to not recombine normally.  By normally, I don’t mean something is medically wrong, I mean that it’s not what we are expecting to see in terms of the 50% rule.  In essence, we would expect to see approximately half of the X of each parent, grandfather and grandmother, passed on to the child from the mother in the maternal line where recombination is a possibility.  That appears to not be happening reliably.  Not only is this not happening in the nice neat 50% number, the X chromosome seems to be often not recombining at all.  If you think the percentages in the chart above threw a monkey wrench into genetic genealogy predictions, this information, if it holds up in a much larger test, in essence throws our predictive capability, at least as we know it today, out the window.

The X Doesn’t Recombine as Expected

In my generational study, I noticed that the X seemed not to be recombining.  Then I remembered something that Matt Dexter said at the Family Tree DNA Conference in November 2013 in Houston.  Matt has the benefit of having a full 3 generation pedigree chart where everyone has been tested, and he has 5 children, so he can clearly see who got the DNA from which of their grandparents.

I contacted Matt, and he provided me with his X chromosomal information about his family, giving me permission to share it with you.  I have taken the liberty of reformatting it in a spreadsheet so that we can view various aspects of this data.

Dexter table

First, note that I have sorted these by grandchild.  There are two females, who have the opportunity to inherit from 3 grandparents.  The females inherited one copy of the X from their mother, who had two copies herself, and one copy of the X from her father who only had his mother’s copy.  Therefore, the paternal grandfather is listed above, but with the note “cannot inherit.”  This distinguishes this event from the circumstance with Grandson 1 where he could inherit some part of his maternal grandfather’s X, but did not.

For the three grandsons, I have listed all 4 grandparents and noted the paternal grandmother and grandfather as “cannot inherit.”  This is of course because the grandsons don’t inherit an X from their father.  Instead they inherit the Y, which is what makes them male.

According to the Rule of 50%, each child should receive approximately half of the DNA of each maternal grandparent that they can inherit from.  I added the columns, % Inherited cM and % Inherited SNP to illustrate whether or not this number comes close to the 50% we would expect.  The child MUST have a complete X chromosome which is comprised of 18092 SNPs and is 195.93cM in length, barring anomalies like read errors and such, which do periodically occur.  In these columns, 1=100%, so in the Granddaughter 1 column of % Inherited cM, we see 85% for the maternal grandfather and about 15% for the maternal grandmother.  That is hardly 50-50, and worse yet, it’s no place close to 50%.

Granddaughter 1 and 2 must inherit their paternal grandmother’s X intact, because there is nothing to recombine with.

Granddaughter 2 inherited even more unevenly, with about 90% and 10%, but in favor of the other grandparent.  So, statistically speaking, it’s about 50% for each grandparent between the two grandchildren, but it is widely variant when looking at them individually.

Grandson 1, as mentioned, inherited his entire X from his maternal grandmother with absolutely no recombination.

Grandsons 2 and 3 fall much closer to the expected 50%.

The problem for most of us is that you need 3 or 4 consecutive generations to really see this happening, and most of us simply don’t have data that deep or robust.

A recent discussion on the DNA Genealogy Rootsweb mailing list revealed several more of these documented occurrences, among them, two separate examples where the X chromosome was unrecombined for 4 generations.

Robert Paine, a long-time genetic genealogy contributor and project administrator reported that in his family medical/history project, at 23andMe, 25% of his participants show no recombination on the X chromosome.  That’s a staggering percentage.  His project consists of  21 people in with 2 blood lines tested 5 generations deep and 2 bloodlines tested at 4 generations

One woman’s X matches her great-great-grandmother’s X exactly.  That’s 4 separate inheritance events in a row where the X was not recombined at all.

The graphic below, provided by Robert,  shows the chromosome browser at 23andMe where you can see the X matches exactly for all three participants being compared.

The screen shot is of the gg-granddaughter Evelyn being compared to her gg-grandmother, Shevy, Evelyn’s g-grandfather Rich and Evelyn’s grandmother Cyndi. 23andme only lets you compare 3 individuals at a time so Robert did not include Evelyn’s mother Shay, who is an exact match with Evelyn.

Paine X

Where Are We?

So what does this mean to genetic genealogy?  It certainly does not mean we should throw the baby out with the bath water.  What it is, is an iceberg warning that there is more lurking beneath the surface.  What and how big?  I can’t tell you.  I simply don’t know.

Here’s what I can tell you.

  • The X chromosome matching can tell you that you do share a common ancestor someplace back in time.
  • The amount of DNA shared is not a reliable predictor of how long ago you shared that ancestor.
  • The amount of DNA shared cannot predict your relationship with your match.  In fact, even a very large match can be many generations removed.
  • The absence of an X match, even with someone closely related whom you should match does not disprove a descendant relationship/common ancestor.
  • The X appears to not recombine at a higher rate than previously thought, the previous expectation being that this would almost never happen.
  • The X, when it does recombine appears to do so in a manner not governed by the 50% rule.  In fact, the 50% rule may not apply at all except as an average in large population studies, but may well be entirely irrelevant or even misleading to the understanding of X chromosome inheritance in genetic genealogy.

The X is still useful to genetic genealogists, just not in the same way that other autosomal data is utilized.  The X is more of an auxiliary chromosome that can provide information in addition to your other matches because of its unique inheritance pattern.

Unfortunately, this discovery leaves us with more questions than answers.  I found it incomprehensible that this phenomenon has never been studied in humans, or in animals, for that matter, at least not that I could find.  What few references I did find indicated that the X seems to recombine with the same frequency as the other autosomes, which we are finding to be untrue.

What is needed is a comprehensive study of hundreds of X transmission events at least 3 generations deep.

As it turns out, we’re not the only ones confused by the behavior of the X chromosome.  Just yesterday, the New York Times had an article about Seeing the X Chromosome in a New Light.  It seems that either one copy of the X, or the other, is disabled cell by cell in the human body.  If you are interested in this aspect of science, it’s a very interesting read.  Indeed, our DNA continues to both amaze and amuse us.

A special thank you to Jim Owston, Matt Dexter, Blaine Bettinger and Robert Paine for sharing their information.

Additional sources:

Polymorphic Variation in Human Meiotic
Recombination (2007)
Vivian G. Cheung
University of Pennsylvania
http://repository.upenn.edu/cgi/viewcontent.cgi?article=1102&context=be_papers

A Fine-Scale Map of Recombination Rates and Hotspots Across the Human Genome, Science October 2005, Myers et al
http://www.sciencemag.org/content/310/5746/321.full.pdf
Supplemental Material
http://www.sciencemag.org/content/suppl/2005/10/11/310.5746.321.DC1

Promethease – Genetic Health Information Alternative

People are beginning to ask about how they can obtain some of the health information that they were previously receiving from 23andMe.  For $5, at Promethease,  you can upload any of the autosomal files from either Family Tree DNA, 23andMe or Ancestry.com.  They will process your raw data and provide you with a report that is available to download from their server for 45 days.  They also e-mail you a copy.

At Promethease, your raw data file is deleted within 24 hours of completion of your report, and your report file will be deleted after 45 days, so be sure to download your report for future reference.  Currently they process about 20,000 genotypes, or SNPs.  They do note that they update their data base regularly from SNPedia, fed from PubMed publications.  Therefore your report in the future will include SNPs that won’t be in your report today and what we’ve learned about those SNPs may differ as well.

They have also noted that you receive different items in your report based on which vendor’s full data file you submit.  That’s true.  I uploaded all 3 of my raw data files, from Ancestry, 23andMe and Family Tree DNA and ran Promethease against each of them.  While 23andMe optimized their chip for medical and health results, Family Tree DNA intentionally removed some medically relevant data in order to avoid any FDA type of issues.  It’s unknown how Ancestry treats medically significant SNPs, but I’m running all 3 vendor’s files to view differences.

  • The Promethease report utilizing the 23andMe raw data file reported on 20,080 genotypes.
  • The Promethease report utilizing the Family Tree DNA raw data file reported on 8179 genotypes.
  • The Promethease report utilizing the Ancestry raw data file reported on 10,498 genotypes.

To start the process of uploading your file and running your report, visit:

https://promethease.com/ondemand

Of course, you’ll need to take care of housekeeping, sign up and pay.

You will then be asked to select an ethnicity.  I always hate this question, because I’m more than one and the categories never fit.  If you don’t fit any category well, select the closest.   Promethease says it only affects the sort order.  That was a relief to me, as I always wonder what I’m missing by making one selection over another.

While the report actually runs, which takes about 15-20 minutes, amuse yourself by watching the video about how to download, read and understand your results.  Or you could write a blog, like me!

Promethease instructional video

You can review this video at any time by visiting the original link.  It does make more sense after you have your report in hand.

My report only took 8 minutes to run, and according to the front page of my report, they analyzed over 20,000 SNPs or known mutation locations.  I’m excited to see what my report holds.

One of the reasons I’ve been interested in this type of DNA reporting is that my mother was “diagnosed” with Parkinson’s Disease. I put diagnosed in quotes, because Parkinson’s is a diagnosis of exclusion, for which there is no specific diagnostic test, meaning the diagnosis is one made after other alternative diseases for which there are tests, are excluded.  However, she never had some of the traditional symptoms, like the specific walking gait typical in Parkinson’s patients, nor some of the other symptoms, nor were the Parkinson’s medications effective in controlling her hand tremors. Her father also had the same tremors, which I’ve always suspected was Familial Tremor, not Parkinson’s.  I wanted to see if Mom or I carried elevated risk for Parkinson’s.  Mom’s DNA was archived at Family Tree DNA, so I could run the Family Finder test even though she had passed away by the time autosomal testing was available.  So I uploaded and ran her file at Promethease too, and compared with my own.

So, let’s look at my report based on the 23andMe raw data file.

Promethease report

At this point, you have to choose to click on “Bad News” or “Good News” first.  Someone should do a study about whether you select bad or good is genetically influenced.

In my case, I was interested to see if my “bad news” was the same “bad news” that 23andMe provided.  My top “bad news” item is indeed the same item that is reported at 23andMe.  Having said that, there are a lot more and different items here that were not reported at 23andMe.  After looking at the varied results from Promethease, I suspect that 23andMe was trying to distill data on my behalf.

However, Promethease does not attempt to analyze your results.  Some mutations are known to be connected to multiple conditions, so they simply tell you that.  In some cases, you will have some negative and some positive mutations for the same disease.  Again, they simply inform you, complete with a reference.  It’s worth noting that for one disease I’m particularly interested in, Parkinson’s, I have a lot of conflicting data, pages worth.  This just goes to show how complex interpreting this information really is, and shows that genetic predisposition, positive or negative, with only a few exceptions, is not genetic predetermination.

My good news made me feel really good.  I’m at decreased risk of frontotemporal dementia or Alzheimer’s and Parkinson’s.  I’m optimistic and empathetic.  I wonder if this has anything to do with selecting the bad news option first – I knew I had the good news to look forward to.  Get the bad stuff over with and get on with it…

Ironically, some of my good news items are in direct conflict with some of my bad news items.  And yes, some are Parkinson’s, which has apparently been more heavily studied that some other diseases.  Hopefully, the decreased and elevated risks will cancel each other out and I’ll just be average.

However, when running my Ancestry data file at Promethease, one of my elevated risks was Parkinson’s, based on the SNPs discovered in the 23andMe research, which conflicts directly with the information provided based on the 23andMe raw data file.  Searching further, different SNPs have been reported to either be associated with increased or decreased incidence of the disease – and I carry some of each – but none are extremely elevated.

So where does this leave me in terms of whether Mom had Parkinson’s, or not?  There is nothing to indicate an extremely high risk of Parkinson’s.  Some indicators are for elevated risk, some for reduced risk.  Compared to the one condition I know she had, which has a very highly elevated risk in all 3 reports, the Parkinson’s risk is simply unremarkable and doesn’t stand out.  Bottom line – I still don’t know for sure, but I still don’t think she had Parkinson’s.  Had I found highly elevated risk factors,  I would have rethought my opinion.

Many diseases have multiple genetic components along with other external factors.  Of course, not all studies report the same findings, and this report is based on academic medical studies.

Rarely are genetic predispositions more than just that, a slightly increased or decreased probability.  Few are fatal and some are more of a life sentence than a death sentence.  Having said this, there are notable exceptions, and if you really don’t want to know a worst case scenario, or aren’t prepared to deal with the results, don’t participate in DNA testing or reporting for medical or health information.  If you have reason to suspect your family may carry one of the genetic terminal illnesses, visit your doctor for advice.

And speaking of physicians, much of this information, such as the information about how certain medications are metabolized could be critically important.  In my case, I’m actually taking one of the mediations that is referenced where I have a decreased sensitivity.  Yep, I knew that, but now I can provide this information to my physician.

For those who tend to worry and borrow trouble they don’t yet have, running this type of report might not be a good idea.  It’s certainly not for hypochondriacs – IMHO.  It’s a personal choice, and a very inexpensive one at that, so financially available to everyone.  If what it contains is going to worry you, don’t do it.  I noticed that there are several anxiety categories in these reports – but then you have to run the report to see if you carry them – kind of a catch 22 if you tend to be anxious and worry.

My personal perspective is that there may be information here that is valuable to me, or to my physicians, or to my children.  The worst “bad news” item I already knew about through 23andMe, but I also anticipated that condition, without genetic testing, because my mother had this same disease in old age.  I’m not referring now to the Parkinson’s, but a vision related condition that she definitely did have.  This item was also consistently reported at a high degree of risk utilizing the data files of 23andMe, Family Tree DNA and Ancestry.  Thankfully, it is an old age problem and one that can be treated, if not cured today.  The Promethease reports, along with 23andMe’s report, have simply reinforced that I need to be proactive and vigilant and to eat lots of veggies.  The good news is that many items include preventative measures in the verbiage or associated studies that your Promethease report links to at SNPedia.

How does this report compare to the 23andMe experience, assuming 23andMe was still an option or might be again in the future for health information?  The 23andMe customer interface is much smoother and more user friendly.  It seems to be focused on more “fun” and less “worry.”  The Promethease report is that, a report, although they do a great job making it interactive.  There is no sugar coating – just the facts Ma’am.  And I think it’s actually much easier to use.  You can easily search by disease, by category, and the searches actually work.

Promethease differs in another way too.  Personally I like the idea that my data is mine, I’m in complete control of it, and it’s not being sold by Promethease out the back door for studies or purposes I might not be too thrilled about.  I don’t want my DNA to be used to patent genes that cause the tests for the condition to be restricted to the patentee at dramatically inflated prices.  While the Supreme Court determined that genes can’t be patented in the case of the BRCA breast cancer genes, the fight continues with lawsuits being filed, and 23andMe holds a Parkinson’s patent that was obtained by utilizing customer data.   Nor do I want my data to be used to patent the technology for “designer babies.”  If my DNA is going to be utilized for research, I want the ability to authorize that use, specifically.

Therefore, I feel much better about uploading a raw data file from an autosomal test at a firm like Family Tree DNA, who NEVER sells or otherwise divulges my data without first requesting permission.  I thereby maintain complete control over my genetic results, rather than utilizing companies who either sell (or otherwise utilize) my results or reserve the right to do so.  This is the case with both 23andMe and Ancestry.com, and to be clear, they have never claimed otherwise.?????????????????????????????

And oh, I forgot to mention…I am just so relieved….I have a decreased risk of baldness….

2013’s Dynamic Dozen – Top Genetic Genealogy Happenings

dna 8 ball

Last year I wrote a column at the end of the year titled  “2012 Top 10 Genetic Genealogy Happenings.”  It’s amazing the changes in this industry in just one year.  It certainly makes me wonder what the landscape a year from now will look like.

I’ve done the same thing this year, except we have a dozen.  I couldn’t whittle it down to 10, partly because there has been so much more going on and so much change – or in the case of Ancestry, who is noteworthy because they had so little positive movement.

If I were to characterize this year of genetic genealogy, I would call it The Year of the SNP, because that applies to both Y DNA and autosomal.  Maybe I’d call it The Legal SNP, because it is also the year of law, court decisions, lawsuits and FDA intervention.  To say it has been interesting is like calling the Eiffel Tower an oversized coat hanger.

I’ll say one thing…it has kept those of us who work and play in this industry hopping busy!  I guarantee you, the words “I’m bored” have come out of the mouth of no one in this industry this past year.

I’ve put these events in what I consider to be relatively accurate order.  We could debate all day about whether the SNP Tsunami or the 23andMe mess is more important or relevant – and there would be lots of arguing points and counterpoints…see…I told you lawyers were involved….but in reality, we don’t know yet, and in the end….it doesn’t matter what order they are in on the list:)

Y Chromosome SNP Tsunami Begins

The SNP tsumani began as a ripple a few years ago with the introduction at Family Tree DNA of the Walk the Y program in 2007.  This was an intensively manual process of SNP discovery, but it was effective.

By the time that the Geno 2.0 chip was introduced in 2012, 12,000+ SNPs would be included on that chip, including many that were always presumed to be equivalent and not regularly tested.  However, the Nat Geo chip tested them and indeed, the Y tree became massively shuffled.  The resolution to this tree shuffling hasn’t yet come out in the wash.  Family Tree DNA can’t really update their Y tree until a publication comes out with the new tree defined.  That publication has been discussed and anticipated for some time now, but it has yet to materialize.  In the mean time, the volunteers who maintain the ISOGG tree are swamped, to say the least.

Another similar test is the Chromo2 introduced this year by Britain’s DNA which scans 15,000 SNPs, many of them S SNPs not on the tree nor academically published, adding to the difficulty of figuring out where they fit on the Y tree.  While there are some very happy campers with their Chromo2 results, there is also a great deal of sloppy science, reporting and interpretation of “facts” through this company.  Kind of like Jekyll and Hyde.  See the Sloppy Science section.

But Walk the Y, Chromo2 and Geno 2.0, are only the tip of the iceburg.  The new “full Y” sequencing tests brought into the marketspace quietly in early 2013 by Full Genomes and then with a bang by Family Tree DNA with the their Big Y in November promise to revolutionize what we know about the Y chromosome by discovering thousands of previously unknown SNPs.  This will in effect swamp the Y tree whose branches we thought were already pretty robust, with thousands and thousands of leaves.

In essence, the promise of the “fully” sequenced Y is that what we might term personal or family SNPs will make SNP testing as useful as STR testing and give us yet another genealogy tool with which to separate various lines of one genetic family and to ratchet down on the time that the most common recent ancestor lived.

http://dna-explained.com/2013/03/31/new-y-dna-haplogroup-naming-convention/

http://dna-explained.com/2013/11/10/family-tree-dna-announces-the-big-y/

http://dna-explained.com/2013/11/16/what-about-the-big-y/

http://www.yourgeneticgenealogist.com/2013/11/first-look-at-full-genomes-y-sequencing.html

http://cruwys.blogspot.com/2013/12/a-first-look-at-britainsdna-chromo-2-y.html

http://cruwys.blogspot.com/2013/11/yseqnet-new-company-offering-single-snp.html

http://cruwys.blogspot.com/2013/11/the-y-chromosome-sequence.html

http://cruwys.blogspot.com/2013/11/a-confusion-of-snps.html

http://cruwys.blogspot.com/2013/11/a-simplified-y-tree-and-common-standard.html

23andMe Comes Unraveled

The story of 23andMe began as the consummate American dotcom fairy tale, but sadly, has deteriorated into a saga with all of the components of a soap opera.  A wealthy wife starts what could be viewed as an upscale hobby business, followed by a messy divorce and a mystery run-in with the powerful overlording evil-step-mother FDA.  One of the founders of 23andMe is/was married to the founder of Google, so funding, at least initially wasn’t an issue, giving 23andMe the opportunity to make an unprecedented contribution in the genetic, health care and genetic genealogy world.

Another way of looking at this is that 23andMe is the epitome of the American Dream business, a startup, with altruism and good health, both thrown in for good measure, well intentioned, but poorly managed.  And as customers, be it for health or genealogy or both, we all bought into the altruistic “feel good” culture of helping find cures for dread diseases, like Parkinson’s, Alzheimer’s and cancer by contributing our DNA and responding to surveys.

The genetic genealogy community’s love affair with 23andMe began in 2009 when 23andMe started focusing on genealogy reporting for their tests, meaning cousin matches.  We, as a community, suddenly woke up and started ordering these tests in droves.  A few months later, Family Tree DNA also began offering this type of testing as well.  The defining difference being that 23andMe’s primary focus has always been on health and medical information with Family Tree DNA focused on genetic genealogy.  To 23andMe, the genetic genealogy community was an afterthought and genetic genealogy was just another marketing avenue to obtain more people for their health research data base.  For us, that wasn’t necessarily a bad thing.

For awhile, this love affair went along swimmingly, but then, in 2012, 23andMe obtained a patent for Parkinson’s Disease.  That act caused a lot of people to begin to question the corporate focus of 23andMe in the larger quagmire of the ethics of patenting genes as a whole.  Judy Russell, the Legal Genealogist, discussed this here.  It’s difficult to defend 23andMe’s Parkinson’s patent while flaying alive Myriad for their BRCA patent.  Was 23andMe really as altruistic as they would have us believe?

Personally, this event made me very nervous, but I withheld judgment.  But clearly, that was not the purpose for which I thought my DNA, and others, was being used.

But then came the Designer Baby patent in 2013.  This made me decidedly uncomfortable.  Yes, I know, some people said this really can’t be done, today, while others said that it’s being done anyway in some aspects…but the fact that this has been the corporate focus of 23andMe with their research, using our data, bothered me a great deal.  I have absolutely no issue with using this information to assure or select for healthy offspring – but I have a personal issue with technology to enable parents who would select a “beauty child,” one with blonde hair and blue eyes and who has the correct muscles to be a star athlete, or cheerleader, or whatever their vision of their as-yet-unconceived “perfect” child would be.  And clearly, based on 23andMe’s own patent submission, that is the focus of their patent.

Upon the issuance of the patent, 23andMe then said they have no intention of using it.  They did not say they won’t sell it.  This also makes absolutely no business sense, to focus valuable corporate resources on something you have no intention of using?  So either they weren’t being truthful, they lack effective management or they’ve changed their mind, but didn’t state such.

What came next, in late 2013 certainly points towards a lack of responsible management.

23andMe had been working with the FDA for approval the health and medical aspect of their product (which they were already providing to consumers prior to the November 22nd cease and desist order) for several years.  The FDA wants assurances that what 23andMe is telling consumers is accurate.  Based on the letter issued to 23andMe on November 22nd, and subsequent commentary, it appears that both entities were jointly working towards that common goal…until earlier this year when 23andMe mysteriously “somehow forgot” about the FDA, the information they owed them, their submissions, etc.  They also forgot their phone number and their e-mail addresses apparently as well, because the FDA said they had heard nothing from them in 6 months, which backdates to May of 2013.

It may be relevant that 23andMe added the executive position of President and filled it in June of 2013, and there was a lot of corporate housecleaning that went on at that time.  However, regardless of who got housecleaned, the responsibility for working with the FDA falls squarely on the shoulders of the founders, owners and executives of the company.  Period.  No excuses.  Something that critically important should be on the agenda of every executive management meeting.   Why?  In terms of corporate risk, this was obviously a very high risk item, perhaps the highest risk item, because the FDA can literally shut their doors and destroy them.  There is little they can do to control or affect the FDA situation, except to work with the FDA, meet deadlines and engender goodwill and a spirit of cooperation.  The risk of not doing that is exactly what happened.

It’s unknown at this time if 23andMe is really that corporately arrogant to think they could simply ignore the FDA, or blatantly corporately negligent or maybe simply corporately stupid, but they surely betrayed the trust and confidence of their customers by failing to meet their commitments with and to the FDA, or even communicate with them.  I mean, really, what were they thinking?

There has been an outpouring of sympathy for 23andme and negative backlash towards the FDA for their letter forcing 23andMe to stop selling their offending medical product, meaning the health portion of their testing.  However, in reality, the FDA was only meting out the consequences that 23andMe asked for.  My teenage kids knew this would happen.  If you do what you’re not supposed to….X, Y and Z will, or won’t, happen.  It’s called accountability.  Just ask my son about his prom….he remembers vividly.  Now why my kids, or 23andMe, would push an authority figure to that point, knowing full well the consequences, utterly mystifies me.  It did when my son was a teenager and it does with 23andMe as well.

Some people think that the FDA is trying to stand between consumers and their health information.  I don’t think so, at least not in this case.  Why I think that is because the FDA left the raw data files alone and they left the genetic genealogy aspect alone.  The FDA knows full well you can download your raw data and for $5 process it at a third party site, obtaining health related genetic information.  The difference is that Promethease is not interpreting any data for you, only providing information.

There is some good news in this and that is that from a genetic genealogy perspective, we seem to be safe, at least for now, from government interference with the testing that has been so productive for genetic genealogy.  The FDA had the perfect opportunity to squish us like a bug (thanks to the opening provided by 23andMe,) and they didn’t.

The really frustrating aspect of this is that 23andMe was a company who, with their deep pockets in Silicon Valley and other investors, could actually afford to wage a fight with the FDA, if need be.  The other companies who received the original 2010 FDA letter all went elsewhere and focused on something else.  But 23andMe didn’t, they decided to fight the fight, and we all supported their decision.  But they let us all down.  The fight they are fighting now is not the battle we anticipated, but one brought upon themselves by their own negligence.  This battle didn’t have to happen, and it may impair them financially to such a degree that if they need to fight the big fight, they won’t be able to.

Right now, 23andMe is selling their kits, but only as an ancestry product as they work through whatever process they are working through with the FDA.  Unfortunately, 23andMe is currently having some difficulties where the majority of matches are disappearing from some testers records.  In other cases, segments that previously matched are disappearing.  One would think, with their only revenue stream for now being the genetic genealogy marketspace that they would be wearing kid gloves and being extremely careful, but apparently not.  They might even consider making some of the changes and enhancements we’ve requested for so long that have fallen on deaf ears.

One thing is for sure, it will be extremely interesting to see where 23andMe is this time next year.  The soap opera continues.

I hope for the sake of all of the health consumers, both current and (potentially) future, that this dotcom fairy tale has a happy ending.

Also, see the Autosomal DNA Comes of Age section.

http://dna-explained.com/2013/10/05/23andme-patents-technology-for-designer-babies/

http://www.thegeneticgenealogist.com/2013/10/07/a-new-patent-for-23andme-creates-controversy/

http://dna-explained.com/2013/11/13/genomics-law-review-discusses-designing-children/

http://www.thegeneticgenealogist.com/2013/06/11/andy-page-fills-new-president-position-at-23andme/

http://dna-explained.com/2013/11/25/fda-orders-23andme-to-discontinue-testing/

http://dna-explained.com/2013/11/26/now-what-23andme-and-the-fda/

http://dna-explained.com/2013/12/06/23andme-suspends-health-related-genetic-tests/

http://www.legalgenealogist.com/blog/2013/11/26/fooling-with-fda/

Supreme Court Decision – Genes Can’t Be Patented – Followed by Lawsuits

In a landmark decision, the Supreme Court determined that genes cannot be patented.  Myriad Genetics held patents on two BRCA genes that predisposed people to cancer.  The cost for the tests through Myriad was about $3000.  Six hours after the Supreme Court decision, Gene By Gene announced that same test for $995.  Other firms followed suit, and all were subsequently sued by Myriad for patent infringement.  I was shocked by this, but as one of my lawyer friends clearly pointed out, you can sue anyone for anything.  Making it stick is yet another matter.  Many firms settle to avoid long and very expensive legal battles.  Clearly, this issue is not yet resolved, although one would think a Supreme Court decision would be pretty definitive.  It potentially won’t be settled for a long time.

http://dna-explained.com/2013/06/13/supreme-court-decision-genes-cant-be-patented/

http://www.legalgenealogist.com/blog/2013/06/14/our-dna-cant-be-patented/

http://dna-explained.com/2013/09/07/message-from-bennett-greenspan-free-my-genes/

http://www.thegeneticgenealogist.com/2013/06/13/new-press-release-from-dnatraits-regarding-the-supreme-courts-holding-in-myriad/

http://www.legalgenealogist.com/blog/2013/08/18/testing-firms-land-counterpunch/

http://www.legalgenealogist.com/blog/2013/07/11/myriad-sues-genetic-testing-firms/

Gene By Gene Steps Up, Ramps Up and Produces

As 23andMe comes unraveled and Ancestry languishes in its mediocrity, Gene by Gene, the parent company of Family Tree DNA has stepped up to the plate, committed to do “whatever it takes,” ramped up the staff both through hiring and acquisitions, and is producing results.  This is, indeed, a breath of fresh air for genetic genealogists, as well as a welcome relief.

http://dna-explained.com/2013/08/07/gene-by-gene-acquires-arpeggi/

http://dna-explained.com/2013/12/05/family-tree-dna-listens-and-acts/

http://dna-explained.com/2013/12/10/family-tree-dnas-family-finder-match-matrix-released/

http://www.haplogroup.org/ftdna-family-finder-matches-get-new-look/

http://www.haplogroup.org/ftdna-family-finder-new-look-2/

http://www.haplogroup.org/ftdna-family-finder-matches-new-look-3/

Autosomal DNA Comes of Age

Autosomal DNA testing and analysis has simply exploded this past year.  More and more people are testing, in part, because Ancestry.com has a captive audience in their subscription data base and more than a quarter million of those subscribers have purchased autosomal DNA tests.  That’s a good thing, in general, but there are some negative aspects relative to Ancestry, which are in the Ancestry section.

Another boon to autosomal testing was the 23andMe push to obtain a million records.  Of course, the operative word here is “was” but that may revive when the FDA issue is resolved.  One of the down sides to the 23andMe data base, aside from the fact that it’s not genealogist friendly, is that so many people, about 90%, don’t communicate.  They aren’t interested in genealogy.

A third factor is that Family Tree DNA has provided transfer ability for files from both 23andMe and Ancestry into their data base.

Fourth is the site, GedMatch, at www.gedmatch.com which provides additional matching and admixture tools and the ability to match below thresholds set by the testing companies.  This is sometimes critically important, especially when comparing to known cousins who just don’t happen to match at the higher thresholds, for example.  Unfortunately, not enough people know about GedMatch, or are willing to download their files.  Also unfortunate is that GedMatch has struggled for the past few months to keep up with the demand placed on their site and resources.

A great deal of time this year has been spent by those of us in the education aspect of genetic genealogy, in whatever our capacity, teaching about how to utilize autosomal results. It’s not necessarily straightforward.  For example, I wrote a 9 part series titled “The Autosomal Me” which detailed how to utilize chromosome mapping for finding minority ethnic admixture, which was, in my case, both Native and African American.

As the year ends, we have Family Tree DNA, 23andMe and Ancestry who offer the autosomal test which includes the relative-matching aspect.  Fortunately, we also have third party tools like www.GedMatch.com and www.DNAGedcom.com, without which we would be significantly hamstrung.  In the case of DNAGedcom, we would be unable to perform chromosome segment matching and triangulation with 23andMe data without Rob Warthen’s invaluable tool.

http://dna-explained.com/2013/06/21/triangulation-for-autosomal-dna/

http://dna-explained.com/2013/07/13/combining-tools-autosomal-plus-y-dna-mtdna-and-the-x-chromosome/

http://dna-explained.com/2013/07/26/family-tree-dna-levels-the-playing-field-sort-of/

http://dna-explained.com/2013/08/03/kitty-coopers-chromsome-mapping-tool-released/

http://dna-explained.com/2013/09/29/why-dont-i-match-my-cousin/

http://dna-explained.com/2013/10/03/family-tree-dna-updates-family-finder-and-adds-triangulation/

http://dna-explained.com/2013/10/21/why-are-my-predicted-cousin-relationships-wrong/

http://dna-explained.com/2013/12/05/family-tree-dna-listens-and-acts/

http://dna-explained.com/2013/12/09/chromosome-mapping-aka-ancestor-mapping/

http://dna-explained.com/2013/12/10/family-tree-dnas-family-finder-match-matrix-released/

http://dna-explained.com/2013/12/15/one-chromosome-two-sides-no-zipper-icw-and-the-matrix/

http://dna-explained.com/2013/06/02/the-autosomal-me-summary-and-pdf-file/

DNAGedcom – Indispensable Third Party Tool

While this tool, www.dnagedcom.com, falls into the Autosomal grouping, I have separated it out for individual mention because without this tool, the progress made this year in autosomal DNA ancestor and chromosomal mapping would have been impossible.  Family Tree DNA has always provided segment matching boundaries through their chromosome browser tool, but until recently, you could only download 5 matches at a time.  This is no longer the case, but for most of the year, Rob’s tool saved us massive amounts of time.

23andMe does not provide those chromosome boundaries, but utilizing Rob’s tool, you can obtain each of your matches in one download, and then you can obtain the list of who your matches match that is also on your match list by requesting each of those files separately.  Multiple steps?  Yes, but it’s the only way to obtain this information, and chromosome mapping without the segment data is impossible

A special hats off to Rob.  Please remember that Rob’s site is free, meaning it’s donation based.  So, please donate if you use the tool.

http://www.yourgeneticgenealogist.com/2013/01/brought-to-you-by-adoptiondna.html

I covered www.Gedmatch.com in the “Best of 2012” list, but they have struggled this year, beginning when Ancestry announced that raw data file downloads were available.  GedMatch consists of two individuals, volunteers, who are still struggling to keep up with the required processing and the tools.  They too are donation based, so don’t forget about them if you utilize their tools.

Ancestry – How Great Thou Aren’t

Ancestry is only on this list because of what they haven’t done.  When they initially introduced their autosomal product, they didn’t have any search capability, they didn’t have a chromosome browser and they didn’t have raw data file download capability, all of which their competitors had upon first release.  All they did have was a list of your matches, with their trees listed, with shakey leaves if you shared a common ancestor on your tree.  The implication, was, and is, of course, that if you have a DNA match and a shakey leaf, that IS your link, your genetic link, to each other.  Unfortunately, that is NOT the case, as CeCe Moore documented in her blog from Rootstech (starting just below the pictures) as an illustration of WHY we so desperately need a chromosome browser tool.

In a nutshell, Ancestry showed the wrong shakey leaf as the DNA connection – as proven by the fact that both of CeCe’s parents have tested at Ancestry and the shakey leaf person doesn’t match the requisite parent.  And there wasn’t just one, not two, but three instances of this.  What this means is, of course, that the DNA match and the shakey leaf match are entirely independent of each other.  In fact, you could have several common ancestors, but the DNA at any particular location comes only from one on either Mom or Dad’s side – any maybe not even the shakey leaf person.

So what Ancestry customers are receiving is a list of people they match and possible links, but most of them have no idea that this is the case, and blissfully believe they have found their genetic connection.  They have found a genealogical cousin, and it MIGHT be the genetic connection.  But then again, they could have found that cousin simply by searching for the same ancestor in Ancestry’s data base.  No DNA needed.

Ancestry has added a search feature, allowed raw data file downloads (thank you) and they have updated their ethnicity predictions.  The ethnicity predictions are certainly different, dramatically different, but equally as unrealistic.  See the Ethnicity Makeovers section for more on this.  The search function helps, but what we really need is the chromosome browser, which they have steadfastly avoided promising.  Instead, they have said that they will give us “something better,” but nothing has materialized.

I want to take this opportunity, to say, as loudly as possible, that TRUST ME IS NOT ACCEPTABLE in any way, shape or form when it comes to genetic matching.  I’m not sure what Ancestry has in mind by the way of “better,” but it if it’s anything like the mediocrity with which their existing DNA products have been rolled out, neither I nor any other serious genetic genealogist will be interested, satisfied or placated.

Regardless, it’s been nearly 2 years now.  Ancestry has the funds to do development.  They are not a small company.  This is obviously not a priority because they don’t need to develop this feature.  Why is this?  Because they can continue to sell tests and to give shakey leaves to customers, most of whom don’t understand the subtle “untruth” inherent in that leaf match – so are quite blissfully happy.

In years past, I worked in the computer industry when IBM was the Big Dog against whom everyone else competed.  I’m reminded of an old joke.  The IBM sales rep got married, and on his wedding night, he sat on the edge of the bed all night long regaling his bride in glorious detail with stories about just how good it was going to be….

You can sign a petition asking Ancestry to provide a chromosome browser here, and you can submit your request directly to Ancestry as well, although to date, this has not been effective.

The most frustrating aspect of this situation is that Ancestry, with their plethora of trees, savvy marketing and captive audience testers really was positioned to “do it right,” and hasn’t, at least not yet.  They seem to be more interested in selling kits and providing shakey leaves that are misleading in terms of what they mean than providing true tools.  One wonders if they are afraid that their customers will be “less happy” when they discover the truth and not developing a chromosome browser is a way to keep their customers blissfully in the dark.

http://dna-explained.com/2013/03/21/downloading-ancestrys-autosomal-dna-raw-data-file/

http://dna-explained.com/2013/03/24/ancestry-needs-another-push-chromosome-browser/

http://dna-explained.com/2013/10/17/ancestrys-updated-v2-ethnicity-summary/

http://www.thegeneticgenealogist.com/2013/06/21/new-search-features-at-ancestrydna-and-a-sneak-peek-at-new-ethnicity-estimates/

http://www.yourgeneticgenealogist.com/2013/03/ancestrydna-raw-data-and-rootstech.html

http://www.legalgenealogist.com/blog/2013/09/15/dna-disappointment/

http://www.legalgenealogist.com/blog/2013/09/13/ancestrydna-begins-rollout-of-update/

Ancient DNA

This has been a huge year for advances in sequencing ancient DNA, something once thought unachievable.  We have learned a great deal, and there are many more skeletal remains just begging to be sequenced.  One absolutely fascinating find is that all people not African (and some who are African through backmigration) carry Neanderthal and Denisovan DNA.  Just this week, evidence of yet another archaic hominid line has been found in Neanderthal DNA and on Christmas Day, yet another article stating that type 2 Diabetes found in Native Americans has roots in their Neanderthal ancestors. Wow!

Closer to home, by several thousand years is the suggestion that haplogroup R did not exist in Europe after the ice age, and only later, replaced most of the population which, for males, appears to have been primarily haplogroup G.  It will be very interesting as the data bases of fully sequenced skeletons are built and compared.  The history of our ancestors is held in those precious bones.

http://dna-explained.com/2013/01/10/decoding-and-rethinking-neanderthals/

http://dna-explained.com/2013/07/04/ancient-dna-analysis-from-canada/

http://dna-explained.com/2013/07/10/5500-year-old-grandmother-found-using-dna/

http://dna-explained.com/2013/10/25/ancestor-of-native-americans-in-asia-was-30-western-eurasian/

http://dna-explained.com/2013/11/12/2013-family-tree-dna-conference-day-2/

http://dna-explained.com/2013/11/22/native-american-gene-flow-europe-asia-and-the-americas/

http://dna-explained.com/2013/12/05/400000-year-old-dna-from-spain-sequenced/

http://www.thegeneticgenealogist.com/2013/10/16/identifying-otzi-the-icemans-relatives/

http://cruwys.blogspot.com/2013/12/recordings-of-royal-societys-ancient.html

http://cruwys.blogspot.com/2013/02/richard-iii-king-is-found.html

http://dna-explained.com/2013/12/22/sequencing-of-neanderthal-toe-bone-reveals-unknown-hominin-line/

http://dna-explained.com/2013/12/26/native-americans-neanderthal-and-denisova-admixture/

http://dienekes.blogspot.com/2013/12/ancient-dna-what-2013-has-brought.html

Sloppy Science and Sensationalist Reporting

Unfortunately, as DNA becomes more mainstream, it becomes a target for both sloppy science or intentional misinterpretation, and possibly both.  Unfortunately, without academic publication, we can’t see results or have the sense of security that comes from the peer review process, so we don’t know if the science and conclusions stand up to muster.

The race to the buck in some instances is the catalyst for this. In other cases, and not in the links below, some people intentionally skew interpretations and results in order to either fulfill their own belief agenda or to sell “products and services” that invariably report specific findings.

It’s equally as unfortunate that much of these misconstrued and sensationalized results are coming from a testing company that goes by the names of BritainsDNA, ScotlandsDNA, IrelandsDNA and YorkshiresDNA. It certainly does nothing for their credibility in the eyes of people who are familiar with the topics at hand, but it does garner a lot of press and probably sells a lot of kits to the unwary.

I hope they publish their findings so we can remove the “sloppy science” aspect of this.  Sensationalist reporting, while irritating, can be dealt with if the science is sound.  However, until the results are published in a peer-reviewed academic journal, we have no way of knowing.

Thankfully, Debbie Kennett has been keeping her thumb on this situation, occurring primarily in the British Isles.

http://dna-explained.com/2013/08/24/you-might-be-a-pict-if/

http://cruwys.blogspot.com/2013/12/the-british-genetic-muddle-by-alistair.html

http://cruwys.blogspot.com/2013/12/setting-record-straight-about-sara.html

http://cruwys.blogspot.com/2013/09/private-eye-on-britainsdna.html

http://cruwys.blogspot.com/2013/07/private-eye-on-prince-williams-indian.html

http://cruwys.blogspot.com/2013/06/britainsdna-times-and-prince-william.html

http://cruwys.blogspot.com/2013/03/sense-about-genealogical-dna-testing.html

http://cruwys.blogspot.com/2013/03/sense-about-genetic-ancestry-testing.html

Citizen Science is Coming of Age

Citizen science has been slowing coming of age over the past few years.  By this, I mean when citizen scientists work as part of a team on a significant discovery or paper.  Bill Hurst comes to mind with his work with Dr. Doron Behar on his paper, A Copernican Reassessment of the Human Mitochondrial DNA from its Root or what know as the RSRS model.  As the years have progressed, more and more discoveries have been made or assisted by citizen scientists, sometimes through our projects and other times through individual research.  JOGG, the Journal of Genetic Genealogy, which is currently on hiatus waiting for Dr. Turi King, the new editor, to become available, was a great avenue for peer reviewed publication.  Recently, research projects have been set up by citizen scientists, sometimes crowd-funded, for specific areas of research.  This is a very new aspect to scientific research, and one not before utilized.

The first paper below includes the Family Tree DNA Lab, Thomas and Astrid Krahn, then with Family Tree DNA and Bonnie Schrack, genetic genealogist and citizen scientist, along with Dr. Michael Hammer from the University of Arizona and others.

http://dna-explained.com/2013/03/26/family-tree-dna-research-center-facilitates-discovery-of-ancient-root-to-y-tree/

http://dna-explained.com/2013/04/10/diy-dna-analysis-genomeweb-and-citizen-scientist-2-0/

http://dna-explained.com/2013/06/27/big-news-probable-native-american-haplogroup-breakthrough/

http://dna-explained.com/2013/07/22/citizen-science-strikes-again-this-time-in-cameroon/

http://dna-explained.com/2013/11/30/native-american-haplogroups-q-c-and-the-big-y-test/

http://www.yourgeneticgenealogist.com/2013/03/citizen-science-helps-to-rewrite-y.html

Ethnicity Makeovers – Still Not Soup

Unfortunately, ethnicity percentages, as provided by the major testing companies still disappoint more than thrill, at least for those who have either tested at more than one lab or who pretty well know their ethnicity via an extensive pedigree chart.

Ancestry.com is by far the worse example, swinging like a pendulum from one extreme to the other.  But I have to hand it to them, their marketing is amazing.  When I signed in, about to discover that my results had literally almost reversed, I was greeted with the banner “a new you.”  Yea, a new me, based on Ancestry’s erroneous interpretation.  And by reversed, I’m serious.  I went from 80% British Isles to 6% and then from 0% Western Europe to 79%. So now, I have an old wrong one and a new wrong one – and indeed they are very different.  Of course, neither one is correct…..but those are just pesky details…

23andMe updated their ethnicity product this year as well, and fine tuned it yet another time.  My results at 23andMe are relatively accurate.  I saw very little change, but others saw more.  Some were pleased, some not.

The bottom line is that ethnicity tools are not well understood by consumers in terms of the timeframe that is being revealed, and it’s not consistent between vendors, nor are the results.  In some cases, they are flat out wrong, as with Ancestry, and can be proven.  This does not engender a great deal of confidence.  I only view these results as “interesting” or utilize them in very specific situations and then only using the individual admixture tools at www.Gedmatch.com on individual chromosome segments.

As Judy Russell says, “it’s not soup yet.”  That doesn’t mean it’s not interesting though, so long as you understand the difference between interesting and gospel.

http://dna-explained.com/2013/08/05/autosomal-dna-ancient-ancestors-ethnicity-and-the-dandelion/

http://dna-explained.com/2013/10/04/ethnicity-results-true-or-not/

http://www.legalgenealogist.com/blog/2013/09/15/dna-disappointment/

http://cruwys.blogspot.com/2013/09/my-updated-ethnicity-results-from.html?utm_source=feedburner&utm_medium=email&utm_campaign=Feed%3A+Cruwysnews+%28Cruwys+news%29

http://dna-explained.com/2013/10/17/ancestrys-updated-v2-ethnicity-summary/

http://dna-explained.com/2013/10/19/determining-ethnicity-percentages/

http://www.thegeneticgenealogist.com/2013/09/12/ancestrydna-launches-new-ethnicity-estimate/

http://cruwys.blogspot.com/2013/12/a-first-look-at-chromo-2-all-my.html

Genetic Genealogy Education Goes Mainstream

With the explosion of genetic genealogy testing, as one might expect, the demand for education, and in particular, basic education has exploded as well.

I’ve written a 101 series, Kelly Wheaton wrote a series of lessons and CeCe Moore did as well.  Recently Family Tree DNA has also sponsored a series of free Webinars.  I know that at least one book is in process and very near publication, hopefully right after the first of the year.  We saw several conferences this year that provided a focus on Genetic Genealogy and I know several are planned for 2014.  Genetic genealogy is going mainstream!!!  Let’s hope that 2014 is equally as successful and that all these folks asking for training and education become avid genetic genealogists.

http://dna-explained.com/2013/08/10/ngs-series-on-dna-basics-all-4-parts/

https://sites.google.com/site/wheatonsurname/home

http://www.yourgeneticgenealogist.com/2012/08/getting-started-in-dna-testing-for.html

http://dna-explained.com/2013/12/17/free-webinars-from-family-tree-dna/

http://www.thegeneticgenealogist.com/2013/06/09/the-first-dna-day-at-the-southern-california-genealogy-society-jamboree/

http://www.yourgeneticgenealogist.com/2013/06/the-first-ever-independent-genetic.html

http://cruwys.blogspot.com/2013/10/genetic-genealogy-comes-to-ireland.html

http://cruwys.blogspot.com/2013/03/wdytya-live-day-3-part-2-new-ancient.html

http://cruwys.blogspot.com/2013/03/who-do-you-think-you-are-live-day-3.html

http://cruwys.blogspot.com/2013/03/who-do-you-think-you-are-live-2013-days.html

http://genealem-geneticgenealogy.blogspot.com/2013/03/the-surnames-handbook-guide-to-family.html

http://www.isogg.org/wiki/Beginners%27_guides_to_genetic_genealogy

A Thank You in Closing

I want to close by taking a minute to thank the thousands of volunteers who make such a difference.  All of the project administrators at Family Tree DNA are volunteers, and according to their website, there are 7829 projects, all of which have at least one administrator, and many have multiple administrators.  In addition, everyone who answers questions on a list or board or on Facebook is a volunteer.  Many donate their time to coordinate events, groups, or moderate online facilities.  Many speak at events or for groups.  Many more write articles for publications from blogs to family newsletters.  Additionally, there are countless websites today that include DNA results…all created and run by volunteers, not the least of which is the ISOGG site with the invaluable ISOGG wiki.  Without our volunteer army, there would be no genetic genealogy community.  Thank you, one and all.

2013 has been a banner year, and 2014 holds a great deal of promise, even without any surprises.  And if there is one thing this industry is well known for….it’s surprises.  I can’t wait to see what 2014 has in store for us!!!  All I can say is hold on tight….

Chromosome Mapping aka Ancestor Mapping

This article really should be called “Identifying Prodigal Great-Grandpa by Ancestor Mapping Your Chromosomes,” because that’s what we’re going to be doing.  It’s fun to map your ancestors to your chromosomes, but there is also a purpose and benefit to be derived.  So you can have guilt-free fun because you’re being productive too!  Oh, and yes, you can work on finding Prodigal Great-Grandpa.

I constantly receive questions similar to this:

“How can I find the identity of my mother’s mother’s father?  My great-grandmother went to her grave with this secret.  That’s one eighth of my ancestry.  What can I do?  How can I find out?”

The answer is that it’s not easy, but it is sometimes possible.  Note the word sometimes.  A good part of the definition of “sometimes” is how willing you are to do the requisite work and if you are lucky or not.  Luck favors those who work hard.  And let’s face it, you’ll never know if you don’t try.  I mean, Prodigal Great-Grandpa is not going to text you from the other side with his name and date of birth.

What we’re going to do is basically work through a process of elimination.  The term for what we are going to do is called chromosome mapping your ancestors or more simply, chromosome mapping or ancestor mapping. In essence, you are going to map your own chromosomes based on which ancestor contributed that part of your DNA.

I have simplified this process greatly in order to explain the concept in a way you can easily follow.  I’m going to use my own pedigree chart as an example.  We’ll pretend we don’t know the identity of Curtis Benjamin Lore.  And yes, for those of you wondering, all of these people are deceased.

Mapping pedigree chart

I realize that you are going to have more than the 32 autosomal matches shown on my example spreadsheet.  You’re also not going to be able to find common ancestry with many of your matches due to things like dead ends, incorrect ancestry, segments identical by state (IBS) or DNA that comes from older ancestors that is not recognizable today after name changes in many generations when descended through females.  There are lots of reasons why you might not be able to find genealogy matches.  It’s the other matches, the ones where you can decipher and determine your common ancestor that help a great deal, and that is where we’ll focus.  These are the ones that matter and the keys to identifying Prodigal Great-Grandpa.

In my example here, we live in a perfect world.  We are looking to map the DNA of my 8 great-grandparents in order to figure out the identity of mother’s mother’s father.  Of course, there is no Y-DNA to test in this instance, so we must rely on autosomal DNA.  Ok, so maybe it’s not such a perfect world.  In a perfect world, you’d be a male trying to find the identity of your father’s father’s father and you could test your own Y-DNA – but then we wouldn’t have a good story nor would we need autosomal DNA.  And most people aren’t that fortunate.

Three generations isn’t that far back – or four – if you count yourself as the first generation.  If you’re quite lucky, you can test one or both of your parents, and maybe even a grandparent or great-aunt or uncle.  Failing that, you should be able to find some cousins from your various lines to test.  This entire exercise will be much MUCH easier for you if you can test multiple people descended from each of the 4 couples involved because you’ll be able to tell which lines your matches do, and don’t, match based on which cousins they also match.  Take DNA test kits to family reunions!

Obviously, you won’t be able to test anyone directly descended from your unknown great-grandfather, except perhaps his children.  The more of his children you can test, either directly or through their children, if deceased, the better your chance of identifying your Prodigal Great-Grandfather because each child inherits some different DNA from their parents.  In my case, we’re going to presume that there are no other known children, other than my grandmother.  So how do we find Prodigal Great-Grandpa?

First, download all of your matches with corresponding segment data from your testing vendor, either 23andMe or Family Tree DNA, into a spreadsheet.  Ancestry does not allow you to do this, which is a significant drawback in terms of testing at Ancestry.  You can do this today at 23andMe and at Family Tree DNA most easily by utilizing www.dnagedcom.com download software.  You can also do this directly at Family Tree DNA on the Chromosome Browser page.

Your spreadsheet will look something like this, but without the colors.  That’s what you’ll be adding, along with the Common Ancestor column.

Mapping spreadsheet

Step 1 – Identify a common ancestor with those individuals you match on common DNA segments.  This is really two steps, the common ancestor part, and the common DNA segment part.  If these people are on your match list, we already know you have a common DNA segment over the vendor’s match threshold.  The presumption here is that if you have 3 people that match on the same segment from the same ancestor, that’s a confirmed “yes” that this particular DNA segment is descended from that ancestor.  You can also label these with only two confirmed descendants from the same ancestor, but I like to see three to be sure, especially if here is any doubt whatsoever that you’re dealing with the same ancestral family.  For example, if you are dealing with 2 people who carry the same surname from the same location, but you can’t quite find the common ancestor – you’ll need 3 matches to identify this segment.

In this case, I was able to test cousins so I know that on chromosome 1, Sue, Joe and John all match me on the same segment and they are all descended from Lazarus Estes.  I know this because one of them descends from Lazarus Estes and his wife, Elizabeth Vannoy, but the other two, Joe and John descend from an Estes upstream of Lazarus, let’s say, his father, John Y. Estes, through another child, which allows me to positively identify this segment as coming not just from the couple, Lazarus Estes and Elizabeth Vannoy, but from Lazarus specifically.

I’ve colored this segment mustard to represent Lazarus and so that you can visually see the difference between the 8 ancestors we’re working with.

2.  Repeat the same process with your other matches, hopefully utilizing cousins, to identify DNA segments of your other ancestors.  I’m only showing a very small subset of all of my DNA on my spreadsheet, and all matches are the exact same 10,000 cM blocks and only on one chromosome, for illustration purposes, but as you work through your matches, you’ll be able to color more and more of your DNA and assign it to different ancestral couples.  Each of your chromosomes will have different colors as different parts of each chromosome come from different ancestors.

Kitty Cooper released a tool to utilize AFTER you do this hard grunt-work part that paints a pretty picture of your ancestors mapped on to your various chromosomes.  Here’s her example.  Notice that each chromosome has 2 sides, Mom’s and Dad’s inheritance side.  We’re going to use that to our advantage and it’s one facet of how we’re going to find Prodigal Great-Grandpa .

mapping kitty cooper

In my case (not this example), I have several segments that I can’t identify to a particular couple, but I can assign it to a group.  This is my Acadian group and is terribly admixed because of extensive intermarriage.  I also have a “Mennonite” segment labeled in the same way for the same reason.  So while I don’t know specifically who, I do know where and that helps a lot too.  But in our perfect world in our example, we don’t have any of that.

3. Now that I have most of my genome colored in and assigned to ancestors, except for Prodigal Great-Grandpa, I can see where all new matches fall.  Let’s say I get a new match on chromosome 1 in the segments between 10,000 and 20,000 and they also match Sue, Joe and John.  Even if the new match is an adoptee and has no genealogy, I can tell them which line they descend from.  And let me tell you, there is no greater gift.  This is exactly how we told new cousin Loujean she descended from the Younger line.

However, if someone matches me on this chromosome 1 segment but NOT Sue, Joe and John, since Sue,Joe, John and I all match on the entire segment from 10,000-20,000, then the new match has to be matching me on my other parent’s side (or is IBS – identical by state, a circumstantial match.)  Never forget that you have two “sides” to each chromosome – Mom’s and Dad’s (except for the X chromosome in males which we are not addressing here.)

4.  The only part of my match spreadsheet left uncolored, since this is a perfect world, would be the part that would probably come from my Prodigal Great-Grandfather.  So let’s look at chromosome 8 and map it.

What we don’t know, and have to determine, is whether or not some of these parts of chromosome 8 really belong to ancestors identified in color above.  However, remember that we are dealing with fairly close matches, only 3 generations, and in some cases, only 2 generations, depending on which cousins tested.  So let’s say you found several cousins to test because grandma had a large family.  Based on the test results of several of your aunts and uncles along with other people descended from great-grandma’s ancestral lines, you are able to map most of the DNA of your great-grandmother.  In this case, we mapped this segment of chromosome 8 to my three cousins, Derrell, Darrell and Daryl.  (Yes, I really do have those cousins.)

The result is that now I have 8 matches that do match me, and based on other cousin matches, do descend from Great-Grandma/Great-Grandpa but don’t match the Derrell trio indicating Great-Grandma’s line.  What this tells me is that the people who aren’t assigned, because they don’t match my cousins Derrell, Daryl and Darrel, or any other distant groups, must then be from Prodigal Great-Grandpa’s side or are “problem matches.”  Problem matches are those that are IBS (Identical by State) or have a technical issue and we’re not going to deal with that here, because this is a perfect world and we’re only concerned with people whose genealogy we have and that match each other.  By this definition, problem matches are automatically eliminated.  So let’s look at the 8 people above who don’t match me or the Derrell cousins on Great-Grandma’s/Great-Grandpa’s side, beginning with Bobbi and ending with Isabel.

5.  Now we turn to genealogy.  We know that these 8 people all share a common ancestral line with Prodigal Great-Grandpa, we just don’t know who that is.  Let’s say that of this group, we discover that Bobbi, Harold and Buster are all related to each other, and glory be, they all know who their common ancestor is, or at least the common ancestral line.  Let’s say that Bobbi and Buster are first cousins in the Lore line and that Harold matches them closely as well, but he is descended from a Lore ancestor further upstream from Bobbi and Buster.  Therefore, we can now say, positively, that Prodigal Great-Grandpa descended somehow from the Lore line.

We still don’t know how Sarah, Ronald, Garret, Nina and Isabel connect to Prodigal Great-Grandpa, and that’s OK.  We can simply leave them uncolored for now.  We can select a color for Bobbi, Harold and Buster and assign then to Prodigal Great-Grandpa who descends from the Lore line.

Mapping PGG Lore

6.  Now it’s time for that luck to kick in.  We don’t know that Prodigal Great-Grandpa carried the surname Lore.  His mother could have been a Lore, or any of his ancestors.  All we have is a common surname and a common ancestor between three people who all match me on the same segment.  So, let’s assemble a tree of our cousins to see if we can narrow the scope of maybe who and where and then let’s get busy with the census and other records.  Geography is important.  Begatting requires proximity and many times, we can find the begatter in the neighborhood.  Also, check your genealogy software data base for this surname.  You may find the surname in an allied line.  Remember, families married their neighbors and often intermarried as well.

Sure enough, look there, in our perfect world, we discover that Nora Kirsch is working in her parents inn named the Kirsch House on the Ohio River in 1880.  The Kirsch House was also a boarding house, and a restaurant and pub.  One of their boarders in 1880 was none other than Benjamin Lore.  Hmmm.  Surely makes you wonder.  Further research on Benjamin Lore shows that he was a wildcat oilfield well driller working in the county where Nora lived and became something of a local legend for discovering the “Blue Lick” water well.  Well, now we have a name, proximity and maybe an opportunity.

7.  Well, peachy, but what next?  Further research on Benjamin Lore shows that he was married in the census, but where was his wife?  In previous census records, we find Benjamin Lore in Warren County, PA with his parents.  In the Warren County records, we find that he married Mary Bills, and additional research shows in 1880 a Mary Lore with 2 children, but no husband.  Court records show they later divorced, with 4 children.  Find those children!!!  They are the key to confirming the identity of Benjamin Lore as Prodigal Great-Grandpa.  If Benjamin’s other children had children about the same time as grandmother, each line should have 3 generations between Benjamin and the current generation.  Benjamin’s great-grandchildren through his first wife would be half-second cousins to me which would be the same as second cousins once removed.  They of course would be a generation closer to my mother whose DNA I also happen to have.

ISOGG has a wonderful Autosomal DNA Statistics page, and here you can see that second cousins once removed would share about 1.5% of their DNA in what is hopefully a large enough segment to match some of the cousins that have already tested.   My mother’s generation, first cousins once removed would share approximately 6.25%.

Mapping cousin chart

Benjamin’s descendants through his first wife may not match all of my cousins, but they will, hopefully, match some of the descendants of Prodigal Great-Grandpa, confirming, as best we can, that Benjamin Lore was grandmother’s father.  The best litmus test of course is how closely they would match the closest generations, like mother or great-aunts/uncles, if they were living.

Full Disclosure Note:  I used my own ancestors for purposes of illustration, even though Curtis Benjamin Lore (shown at right) was not prodigal in quite the way I portrayed in this article, well, at least not from my family’s perspective.  However, he was no saint Lore, CBeither and he may well have other descendants looking for him in this exact situation.  Aside from what we do know, there is the rumor of an illegitimate son showing up on his widow’s doorstep looking for him, albeit, a little too late.  We know that Curtis Benjamin (known as C.B.) Lore did marry Nora Kirsch in Dearborn County, Indiana, in 1888.  These photos are their “wedding photos” but interestingly, there is no photo of them together.

We also know that Curtis Benjamin Lore married Mary Bills in Warren County, PA., had four Lore children, 3 males (Sid, John Curtis and Herbert Judson Lore) and one female (Maud who married a Hendrickson), none of whom we have never been able to find.  Also, Curtis Benjamin Lore was not divorced from Mary until, ahem, after he was married to Nora Kirsch when Mary filed for divorce on the grounds of desertion.Kirsch, Nora

Apparently, his marriage to Nora Kirsch (pictured at right) fell, literally, according to the secret family story, into the “shotgun” category, so one has to understand that his choice of marriage versus death was fairly defensible.  I’m sure Nora’s father, a crusty old Civil War veteran, had no idea that he was already married or Curtis Benjamin would have been on the business end of that shotgun and marriage would not have been a choice.

The family took great care that this “uncomfortable” shotgun marriage situation never be discovered, to the point of falsifying the marriage date in the family Bible and also by “adjusting” the birth of the child by a year, also recorded incorrectly in the family Bible.  Were it not for the fact that I checked the church records in Dearborn County, I would never have discovered the discrepancy.  A child cannot be baptized months before it is born.  I might note that it was only AFTER this discovery that my mother was forthcoming with the “family secret” about the shotgun wedding.  Birth certificates were not issued at that time and my grandmother’s delayed birth certificate was issued based on the falsified family Bible information.

Benjamin probably would not have been bothered by this revelation at all, given what we know about him, but I’m sure Nora’s parents rolled over in their grave once or twice when I made the discovery and now that I’m, ugh, discussing it, and publicly at that.

Rogues and handsome scoundrels.  They are colorful and interesting aren’t they and provide a great amount of spice for family stories.  Hopefully these tools will help you find yours!!!

23andMe Produces about 10% Response Rate for Genealogy

helix graphicI recommended a couple of days ago that everyone contact their matches at 23andMe and make sure, at least, that they have your e-mail in light of the current situation with the FDA deadline occurring about mid-month.  It looks like the genealogy data is safe for the time being, hopefully, but I didn’t know that when I started.

I wrote a nice message, including at least some genealogy information of course, and set out to do the same thing, and it has taken the better part of 4 days.  No, I’m not kidding.  I have 1030 matches.  Let me say, this was not fun.

The most frustrating part for me is that it really doesn’t have to be this difficult.  Think of it this way, all of this effort was just to get to the point where you start out with Family Tree DNA matches.

FTDNA FF Match

When you receive a match at Family Tree DNA, you can contact them without sending a request to match, and you already have their e-mail (the blue envelope box by the pink graphic, above,) and they already have yours.  So the effort expended this past 4 days, just in case 23andMe’s messaging system (i.e. entire website) disappears in light of 23andMe’s FDA issues was spent to get to common ground with Family Tree DNA.  Until I had 1030 people to contact, this difference didn’t seem terribly important, but believe me, it is, especially when those 1000 matches are whittled to one third that number by non-responses.  At Family Tree DNA, 1000 matches are 1000 matches, not 1000 maybes.  As you can see below, at 23andMe, many, many introduction requests go unanswered.  Those would be reflected in all of the blank spaces above “male” and “female” where a name shows after an introduction has been accepted, shown below.

23andMe Match

If you have already invited people to communicate with you at 23andMe, and they haven’t replied, you have to go through the extra steps of cancelling that first invitation and then re-inviting them.  Public Matches?  You have to invite them differently.  So let’s look at it this way, every invitation is a minimum of 5 clicks, that’s if you don’t have to look at anything else in the process, and 1030 people times 5 clicks is 5150 clicks and then another hundred or so that I have to be uninvited to be invited, so maybe another 500 clicks.  Public matches are another 5 clicks, so that’s another 1270 for a total of almost 7000 clicks.    Let’s just say this system was never designed with the genealogist in mind, or even with anyone nearby with any genealogical experience.  The more I use it, the more I dislike it.

There is, however, a good news aspect.  I did contact everyone – which I should have done before, and now they have my e-mail if they want it, now or in the future.  The bad news is that the response rate is just painfully low, which is why I got frustrated and stopped contacting people several months ago.

So let’s look at some raw data.

23andMe cuts off your matches at 1000, meaning your lowest matches fall off the list, unless you have outstanding invitations or communications.  In that case, those people who would otherwise fall off the list if they weren’t sharing or had some form of communications are preserved.  Hence, my 1030 matches instead of 1000.

Of those, 683 matches received first time new invitations, along with about 100 or so re-invitations and 254 Public Match invites.  I had last invited new matches in August.  It’s worth noting that I had not received any match invitations myself in this timeframe.

When someone receives an invitation, they can do one of 4 things.

  1. Ignore it and do nothing (this is what most do)
  2. Decline the invitation (they could simply opt out of genealogy matching instead)
  3. Accept the invitation for contact, but not share any DNA information
  4. Accept the invitation with DNA sharing

I only have 4 outright declines, but 14 people accepted the intro, but declined to share any DNA information.  Clearly their goals are not connecting through genealogy/genetics.

I currently have 365 people sharing in total.  Of those, 254 are public matches, meaning 111 others actually accepted a contact request and are sharing genomes, about 10%.

It appears that Public Matches are already sharing genomes with you, because there is no link to invite them to do so, but they aren’t.  You have to invite public matches in an entirely different, and not obvious, way.

To invite a Public Match to share, click on their name, in this case the name is “My Uncle.”.

23andMe my uncle

You will then see their profile page.  At the top, you’ll see one of two messages.  One is “Why can’t I invite this user to share genomes?” and the other is “Invite My Uncle to share genomes.”  If you get the invite message. click and invite.  If you get the “why can’t I” message, you’re dead in the water.  By the way, the answer to why can’t I is because either you’ve invited them before and the invitation is still outstanding, you’re already sharing (duh) or they have blocked all share requests.  Many Public Matches have blocked share requests.

23andMe my uncle 2

In total, between public matches and those who have opted to accept a share invitation, I can actually send a message to about 35% of my matches, but only hear from or share with less than one third of those, or about 10%..

Of those 365, I’ve actually received a reply message from 91 people, or about 25%.  I’m not counting another 10 people or so who are my close cousins, which would bring the total to just over 100.  I communicated with them before they tested.  In total, that also is about 10% of the total matches.

I sent a different, individual message to each of the people already sharing with me, depending on what we have previously discussed.

Of my 1030 matches, there are about 100 people, 10%, that actually communicated with me after hours and hours of inviting.   This includes all communications, from 2009 through today, not just new contacts.  This tells me that most people at 23andMe simply are not interested in genealogy and of those who are, most are just minimally interested..

Several people were very nice, but simply said that they didn’t know much about their family or were adopted.  I tried to help these folks as much as I could.

I have to laugh, several said they had to ask their mother, and a few more said they had to ask their grandmother.  My grandmothers were born in 1874 and 1888, respectively, but I digress…..

The 23and Me crowd is clearly not the normal genealogy crowd, but that’s exactly why we fish in different pools.  Maybe we can recruit some new genealogists!

I did have some genealogy success.  One woman has done genealogy for 54 years, and although we did not connect our family lines, working with her was a breath of fresh air.  I also ran into two seasoned genetic genealogists that are well known in the community who provided information on their family members.

I do have a half dozen positive connections where we were able to identify a common ancestor or a common line, and a few more that I think would be positive if we could nail down their genealogy, based on location.  In total, about 1% of the matches with a 2% potential with some added elbow grease.  My very endogamous Brethren, Mennonite and Acadian ancestors continue to haunt me by providing me with connections that are traceable to those groups, but not to individual ancestors.  That’s what happens when people intermarry for generations and just pass the same DNA around and around.  But even so, knowing that much is helpful.

So, is it worth 4 days of time to communicate with 90 people you’re related to, and to try to communicate with another 900+ that you’re related to but who aren’t interested in genealogy?  I guess that depends on your goals.  For me, yes, because if this opportunity disappears (meaning if the 23andMe database disappears,) I now have as much information, for the most part, that could be retrieved out of this resource at this time.  Hopefully it won’t disappear, but if it does, I’m ready, or as ready as I can get under the circumstances.  Having said that, 23andMe made the process much more difficult than it had to be and the actual success rate of 1-2% is terribly low for the amount of effort expended.

And maybe, just maybe, since I’m apparently a glutton for punishment, now that I’m finished with this,  I’ll go over to Family Tree DNA and send e-mails to the rest of my 490 matches there.  That might be useful.  At least I don’t have to send invitations first.

Or better yet, I could practice self-flagellation by going over to Ancestry where there is another message system and no genetic tools and try to contact my 5,950 cousins, only six of which are third cousins, none closer, and the rest of which are more distant.  Nah…..I think I’d rather clean the bathroom….

23andMe Suspends Health-Related Genetic Tests

23andme suspends health

We seem to have part of the answer as to what 23andMe will be doing in the short term.  Tonight when I went to the 23andMe site, I was greeted with this message.

In case it’s too small to read, it says:

Welcome to 23andMe.

At this time, we have suspended our health-related genetic tests to comply immediately with the U.S. Food and Drug Administration’s directive to discontinue new consumer access during our regulatory review process.

We are continuing to provide you with both ancestry-related genetic tests and raw genetic data, without 23andMe’s interpretation.

If you are an existing customer please click the link below and then go to the health page for additional information. If you are a customer that purchased before 11/22/13, you will still have access to your health-related results.

We remain firmly committed to fulfilling our long-term mission to help people everywhere have access to their own genetic data and have the ability to use that information to improve their lives.

Upon entering the site, please confirm you understand the new changes in our services.

I understand that 23andMe only sells ancestry reports and raw genetic data at this time. I understand 23andMe will not provide health-related reports.  However, 23andMe may provide health-related results in the future, dependent upon FDA marketing authorization.

I clicked on “I Understand” and was then taken to the normal sign on screen where their test kit is marketed solely as a genetic genealogy kit, with all mention of health removed.

23andme suspends 3

After signing on, the health button on the main page is gone, but by clicking on “My Results” I can still see the Health Overview and proceed from there.  They mentioned additional information on the Health page, but I did not see anything additional.  Perhaps more is yet to come.

23andme suspends health 2

I do notice that the Research Surveys, Health Profile, and Key Health Recommendations are still present and the health reports/interpretation portions are still there in my account.  I was a customer prior to November 22, 2013.  But still, I’m surprised that all of the health surveys and questions remain.  They are clearly still data-gathering with their existing clients, so obviously hopeful about the FDA resolution.

23andme suspends 4

It appears that the genetic genealogy portion is “safe,” for now, although we don’t know what the future holds for 23andMe as they move through the regulatory process with the FDA.  I also wonder if the genetic genealogy marketspace, which has never been a priority to them, can financially sustain them long enough to complete the FDA process.  Part of that answer would likely rest upon how long the process takes and the depth of their pockets.  So far, they are 5 years and counting, but we don’t know how far along they are in the process.  Perhaps additional information will be forthcoming as the deadline of December 13, 15 or 16, depending on how you count, approaches.

I would still suggest downloading your information, just in case, and I wouldn’t wait until the last minute.  No matter how well intentioned they are, they may find themselves in a situation where they cannot provide extensive notification about impending changes.