Ancient Ireland’s Y and Mitochondrial DNA – Do You Match???

Ancient Ireland – the land of Tara and Knowth and the passage tombs of New Grange. Land of legend, romance, and perchance of King Arthur, or at least some ancient king who became Arthur in legend.

The island of Ireland, today Ireland and Northern Ireland, was a destination location, it seems, the westernmost island in the British Isles, and therefore the western shore of Europe. Anyone who sailed further west had better have weeks of food, water, and a great deal of good luck.

But who settled Ireland, when, and where did they come from? How many times was Ireland settled, and did the new settlers simply mingle with those already in residence, or did they displace the original settlers? Oral history recorded in the most ancient texts speaks of waves of settlement and conquest.

According to two papers, discussed below, which analyze ancient DNA, there were two horizon events that changed life dramatically in Europe, the arrival of agriculture about 3750 BC, or about 5770 years ago, and the arrival of metallurgy about 2300 BC, or 4320 years ago.

The people who lived in Ireland originally are classified as the Mesolithic people, generally referred to as hunter-gatherers. The second wave was known as Neolithic or the people who arrived as farmers. The third wave heralded the arrival of the Bronze Age when humans began to work with metals.

Our answers about Irish settlers come from the skeletons of the people who lived in Ireland at one time and whose bones remain in various types of burials and tombs.

The first remains to be processed with high coverage whole genome sequencing were those of 3 males whose remains were found in a cist burial on volcanic Rathlin Island, located in the channel between Ireland and Scotland.

In 795, Rathlin had the dubious honor of being the first target of Viking raiding and pillaging.

Rathlin Island is but a spit of land, with a total population of about 150 people, 4 miles east to west and 2.5 miles north to south. Conflict on the island didn’t stop there, with the Campbell and McDonald clan, among others, having bloody clashes on this tiny piece of land, with losers being tossed from the cliffs.

The island is believed to have been settled during the Mesolithic period, according to O’Sullivan in Maritime Ireland, An Archaeology of Coastal Communities (2007). The original language of Rathlin was Gaelic. Having been a half-way point between Ireland and Scotland, it’s believed that Rathlin served as an important cog in the Dalriada diaspora with Dalriada people taking their language, through Rathlin, into Scotland from about 300 AD, or 1700 years ago.

The first Irish remains whose DNA was sequenced at the whole genome level are from those three men and a much earlier Neolithic woman.

  • Three men from a cist burial in Rathlin Island, Co. Antrim (2026-1534 BC) with associated food vessel pottery.
  • A Neolithic woman (3343-3030 BC) from Ballynahatty, County, Down, south of Belfast, found in an early megalithic passage-like grave

Megalithic tomb at the centre of the Giant’s Ring in Ballynahatty, Ireland, photo by robertpaulyoung – [1], CC BY 2.0, https://commons.wikimedia.org/w/index.php?curid=3221494

The female is clearly older than the three Rathlin males. According to Cassidy, et al, 2016, she clusters with 5 other Middle Neolithic individuals from Germany, Spain, and Scandinavia, while the males cluster with early Bronze Age genomes from central and northern Europe, reflecting a division between hunter-gatherer and early farmer individuals.

The males reflect genetic components of the Yamnaya, early Bronze Age herders from the Pontic Steppe, along with an equal level of Caucasus admixture.

The threshold between the Neolithic and Bronze Age fell at about 3750 BC in western Europe and Ireland, right between these two burials.

Even Earlier Burials

In 2020, Cassidy et al sequenced another 44 individuals from Irish passage grave burials ranging in age from 4793 to 2910 BC, or about 3000 to 7000 years ago. All of the men are members of haplogroup I, except two who are Y haplogroup H.

The Rathlin males, all haplogroup R1b, combined with evidence provided by later genetic analysis of passage grave remains point decisively towards a population replacement – with haplogroup R males replacing the previous inhabitants of both Europe and the British Isles.

In far western Ireland, haplogroup R and subgroups reach nearly 100% today.

I would encourage you to read the two papers, linked below, along with supplemental information. They are absolutely fascinating and include surprises involving both the history between Ireland and continental Europe, along with the relationships between the people buried at Newgrange.

Not only that, but the oral history regarding an elite sibling relationship involving the sun was passed down through millenia and seems to be corroborated by the genetics revealed today.

The most recent 2020 paper includes extensive archaeological context revolving around passage graves and megalithic tombs. When I visited New Grange in 2017, above, I was told that genetic analysis was underway on remains from several ancient burials.

I’m incredibly grateful that Dr. Dan Bradley’s ancient DNA lab at the Smurfit Institute of Genetics in Dublin, which I was also privileged to visit, was not only working on these historical treasures but that they were successful in obtaining high-quality results for Y DNA, autosomal and mitochondrial.

Dr. Dan Bradley in his ancient DNA lab in Dublin.

Take a look at these fascinating papers and then, see if you match any of the ancient samples.

Papers

Neolithic and Bronze Age migration to Ireland and establishment of the insular Atlantic genome by Cassidy et al 2016

This paper included the Ballynahatty female and the three Rathlin Island males.

Significance

Modern Europe has been shaped by two episodes in prehistory, the advent of agriculture and later metallurgy. These innovations brought not only massive cultural change but also, in certain parts of the continent, a change in genetic structure. The manner in which these transitions affected the islands of Ireland and Britain on the northwestern edge of the continent remains the subject of debate. The first ancient whole genomes from Ireland, including two at high coverage, demonstrate that large-scale genetic shifts accompanied both transitions. We also observe a strong signal of continuity between modern-day Irish populations and the Bronze Age individuals, one of whom is a carrier for the C282Y hemochromatosis mutation, which has its highest frequencies in Ireland today.

Abstract

The Neolithic and Bronze Age transitions were profound cultural shifts catalyzed in parts of Europe by migrations, first of early farmers from the Near East and then Bronze Age herders from the Pontic Steppe. However, a decades-long, unresolved controversy is whether population change or cultural adoption occurred at the Atlantic edge, within the British Isles. We address this issue by using the first whole genome data from prehistoric Irish individuals. A Neolithic woman (3343–3020 cal BC) from a megalithic burial (10.3× coverage) possessed a genome of predominantly Near Eastern origin. She had some hunter–gatherer ancestry but belonged to a population of large effective size, suggesting a substantial influx of early farmers to the island. Three Bronze Age individuals from Rathlin Island (2026–1534 cal BC), including one high coverage (10.5×) genome, showed substantial Steppe genetic heritage indicating that the European population upheavals of the third millennium manifested all of the way from southern Siberia to the western ocean. This turnover invites the possibility of accompanying introduction of Indo-European, perhaps early Celtic, language. Irish Bronze Age haplotypic similarity is strongest within modern Irish, Scottish, and Welsh populations, and several important genetic variants that today show maximal or very high frequencies in Ireland appear at this horizon. These include those coding for lactase persistence, blue eye color, Y chromosome R1b haplotypes, and the hemochromatosis C282Y allele; to our knowledge, the first detection of a known Mendelian disease variant in prehistory. These findings together suggest the establishment of central attributes of the Irish genome 4,000 y ago.

A Dynastic elite in monumental Neolithic society by Cassidy et al, 2020

Poulnabrone Dolmen, County Clare, where disarticulated remains of 35 individuals have been excavated and two, approximately 5500-6000 years old, have resulting haplogroups.

This second article includes a great deal of archaeological and burial information which includes caves, reefs, cist burials, boulder chambers, peat bogs, dry-stone walls, portal tombs (think Stonehenge style structures), megalithic tombs such as the Giant’s Ring, court tombs, and passage tombs, including Newgrange.

Abstract

The nature and distribution of political power in Europe during the Neolithic era remains poorly understood1. During this period, many societies began to invest heavily in building monuments, which suggests an increase in social organization. The scale and sophistication of megalithic architecture along the Atlantic seaboard, culminating in the great passage tomb complexes, is particularly impressive2. Although co-operative ideology has often been emphasized as a driver of megalith construction1, the human expenditure required to erect the largest monuments has led some researchers to emphasize hierarchy3—of which the most extreme case is a small elite marshalling the labour of the masses. Here we present evidence that a social stratum of this type was established during the Neolithic period in Ireland. We sampled 44 whole genomes, among which we identify the adult son of a first-degree incestuous union from remains that were discovered within the most elaborate recess of the Newgrange passage tomb. Socially sanctioned matings of this nature are very rare, and are documented almost exclusively among politico-religious elites4—specifically within polygynous and patrilineal royal families that are headed by god-kings5,6. We identify relatives of this individual within two other major complexes of passage tombs 150 km to the west of Newgrange, as well as dietary differences and fine-scale haplotypic structure (which is unprecedented in resolution for a prehistoric population) between passage tomb samples and the larger dataset, which together imply hierarchy. This elite emerged against a backdrop of rapid maritime colonization that displaced a unique Mesolithic isolate population, although we also detected rare Irish hunter-gatherer introgression within the Neolithic population.

Y DNA Analysis at FamilyTreeDNA

Fortunately, the minimum coverage threshold for the Bradley lab was 30X, meaning 30 scanned reads. Of the 37 males sequenced, the lab was able to assign a Y DNA haplogroup to 36.

Family Tree DNA downloaded the BAM files and Michael Sager analyzed the Y DNA. The results split about 8 Y DNA lines, resulting in a total of 16 different haplogroup assignments. There are a couple more that may split with additional tests.

Cassidy et al report that the Y DNA results in several geographic locations, using the ISOGG tree (2018) for haplogroup assignment, although in some cases, I did find some inconsistencies in their haplogroup and SNP names. I would recommend reading the paper in full for the context, including the supplementary information, and not simply extracting the SNP information, because the context is robust as is their analysis.

If your family hails from the Emerald Isle, chances are very good that these people represent your ancestral lines, one way or another – even if you don’t match them exactly. The events they witnessed were experienced by your ancestors too. There appears to have been a vibrant, diverse community, or communities, based on the burials and history revealed.

Of course, we all want to know if our Y DNA or mitochondrial DNA haplogroups, or that of our family members matches any of these ancient samples.

Thank you to Michael Sager, phylogeneticist, and Goran Runfeldt, head of R&D at Family Tree DNA for making this information available. Without their generosity, we would never know that an ancient sample actually split branches of the tree, nor could we see if we match.

Do You Match?

I explained, in this article, here, step-by-step, how to determine if your Y DNA or mitochondrial DNA matches these ancient samples.

If you only have a predicted or base haplogroup, you can certainly see if your haplogroup is upstream of any of these ancient men. However, you’ll receive the best results if you have taken the detailed Big Y-700 test, or for the mitochondrial DNA lines, the full sequence test. You can upgrade or order those tests, here. (Sale started today.)

Sample: Rathlin1 / RM127 (Cassidy et al. 2016)
Sex: Male
Location: Glebe, Rathlin Island, Northern Ireland
Age: Early Bronze Age 2026-1885 cal BC
Y-DNA: R-DF21
mtDNA: U5a1b1e

Sample: Rathlin2 / RSK1 (Cassidy et al. 2016)
Sex: Male
Location: Glebe, Rathlin Island, Northern Ireland
Age: Early Bronze Age 2024-1741 cal BC
Y-DNA: R-DF21
mtDNA: U5b2a2

Sample: Rathlin3 / RSK2 (Cassidy et al. 2016)
Sex: Male
Location: Glebe, Rathlin Island, Northern Ireland
Age: Early Bronze Age 1736-1534 cal BC
Y-DNA: R-L21
mtDNA: J2b1a

Sample: Ballynahatty / BA64 (Cassidy et al. 2016)
Sex: Female
Location: Ballynahatty, Down, Northern Ireland
Age: Middle to Late Neolithic 3343-3020 cal BC
mtDNA: HV0-T195C!

The above 4 samples were from the original 2016 paper, with the additional samples from 2020 added below

Sample: Ashleypark3 / ASH3 (Cassidy et al. 2020)
Sex: Male
Location: Ashleypark, Tipperary, Ireland
Age: Early-Middle Neolithic 3712-3539 cal BC
Y-DNA: I-FT344600
FTDNA Comment: Ashleypark3, Parknabinnia186, Parknabinnia2031, Parknabinnia672, Parknabinnia675, Parknabinnia768 and Poulnabrone06 split the I2-L1286 (S21204+/L1286-) branch. These samples, along with SBj (Gunther 2018), I1763 (Mathieson 2018), Ajv54 (Malmström 2019) and Ajv52, Ajv58 and Ajv70 (Skoglund 2012) form the branch I-FT344596. All Cassidy samples form an additional branch downstream, I-FT344600. There is further evidence that SBj, Ajv58 and Ajv52 might form an additional branch, sibling to I-FT344600
mtDNA: T2c1d1

Sample: Killuragh6 / KGH6 (Cassidy et al. 2020)
Sex: Male
Location: Killuragh, Limerick, Ireland
Age: Mesolithic 4793-4608 cal BC
Y-DNA: I-V4921
FTDNA Comment: Joins ancient samples Loschbour, Motala12, Motala3 (Lazaridis 2015) and Steigen (Gunther 2018) at I2-V4921
mtDNA: U5b2a

Loschbour Man is from present-day Luxembourg, Motala is from Sweden and Steigen is from Norway.

Sample: Parknabinnia186 / PB186 (Cassidy et al. 2020)
Sex: Male
Location: Parknabinnia, Clare, Ireland
Age: Middle Neolithic 3518-3355 cal BC
Y-DNA: I-FT344600
FTDNA Comment: See Ashleypark3
mtDNA: X2b-T226C

Sample: Parknabinnia2031 / PB2031 (Cassidy et al. 2020)
Sex: Male
Location: Parknabinnia, Clare, Ireland
Age: Middle Neolithic 3632-3374 cal BC
Y-DNA: I-FT344600
FTDNA Comment: See Ashleypark3
mtDNA: K1a2b

Sample: Parknabinnia672 / PB672 (Cassidy et al. 2020)
Sex: Male
Location: Parknabinnia, Clare, Ireland
Age: Middle Neolithic 3626-3196 cal BC; 3639-3384 cal BC
Y-DNA: I-FT344600
FTDNA Comment: See Ashleypark3
mtDNA: T2c1d-T152C!

Sample: Parknabinnia675 / PB675 (Cassidy et al. 2020)
Sex: Male
Location: Parknabinnia, Clare, Ireland
Age: Middle Neolithic 3263-2910 cal BC; 3632-3372 cal BC
Y-DNA: I-FT344600
FTDNA Comment: See Ashleypark3
mtDNA: H1

Sample: Parknabinnia768 / PB768 (Cassidy et al. 2020)
Sex: Male
Location: Parknabinnia, Clare, Ireland
Age: Middle Neolithic 3642-3375 cal BC
Y-DNA: I-FT344600
FTDNA Comment: See Ashleypark3
mtDNA: H4a1a1

Sample: Poulnabrone06 / PN06 (Cassidy et al. 2020)
Sex: Male
Location: Poulnabrone, Clare, Ireland
Age: Middle Neolithic 3635-3376 cal BC
Y-DNA: I-FT344600
FTDNA Comment: See Ashleypark3
mtDNA: H

Sample: Sramore62 / SRA62 (Cassidy et al. 2020)
Sex: Male
Location: Sramore, Leitrim, Ireland
Age: Mesolithic 4226-3963 cal BC
Y-DNA: I-S2519
FTDNA Comment: Split the I2-S2519 branch. Pushes Cheddar man and SUC009 down to I-S2497. Other relevant pre-L38s include I2977 (I-Y63727) and R11, I5401, I4971, I4915 I4607 (I-S2599)
mtDNA: U5a2d

This branch is ancestral to Cheddar Man who dates from about 9000 years ago and was found in Cheddar Gorge, Somerset, England. S2497 has 141 subbranches.

Sample: Annagh1 / ANN1 (Cassidy et al. 2020)
Sex: Male
Location: Annagh, Limerick, Ireland
Age: Middle Neolithic 3638-3137 cal BC
Y-DNA: I-Y3712
FTDNA Comment: One of 15 ancient samples currently on this branch
mtDNA: K1a-T195C!

Men from Germany and Ireland are also found on this branch which hosts 47 subbranches.

Sample: Annagh2 / ANN2 (Cassidy et al. 2020)
Sex: Male
Location: Annagh, Limerick, Ireland
Age: Middle Neolithic 3705-3379 cal BC
Y-DNA: I-Y3712
FTDNA Comment: One of 15 ancient samples currently on this branch
mtDNA: H4a1a1

Along with men from Germany and Ireland, and 47 subbranches.

Sample: Ardcroney2 / ARD2 (Cassidy et al. 2020)
Sex: Male
Location: Ardcrony, Tipperary, Ireland
Age: Middle Neolithic 3624-3367 cal BC
Y-DNA: I-FT354500
FTDNA Comment: Ardcroney2 and Parknabinnia443 split the I2-Y13518 branch and form a branch together (I-FT354500). Additional ancient samples residing on I-Y13518 include I2637, I2979, I6759, and Kelco cave
mtDNA: J2b1a

Kelco Cave is in Yorkshire, England.

Sample: Ashleypark1 / ASH1 (Cassidy et al. 2020)
Sex: Male
Location: Ashleypark, Tipperary, Ireland
Age: Middle Neolithic 3641-3381 cal BC
Y-DNA: I-Y3712
FTDNA Comment: One of 15 ancient samples currently on this branch
mtDNA: K2a9

Sample: Baunogenasraid72 / BG72 (Cassidy et al. 2020)
Sex: Male
Location: Baunogenasraid, Carlow, Ireland
Age: Middle Neolithic 3635-3377 cal BC
Y-DNA: H-FT362000
FTDNA Comment: Baunogenasraid72 and Jerpoint14 split the H-SK1180 branch and form branch together (H-FT362000). Several other additional ancient samples belong to this branch as well including FLR001, FLR002, FLR004, GRG022, GRG041 (Rivollat 2020), and BUCH2 (Brunel 2020)
mtDNA: K1a4a1

Y haplogroup H is hen’s-teeth rare.

Sample: Carrowkeel531 / CAK531 (Cassidy et al. 2020)
Sex: Male
Location: Carrowkeel, Sligo, Ireland
Age: Late Neolithic 2881-2625 cal BC
Y-DNA: I-FT380380
FTDNA Comment: Joins ancient sample prs013 (Sánchez-Quinto 2019)
mtDNA: H1

Sample: Carrowkeel532 / CAK532 (Cassidy et al. 2020)
Sex: Male
Location: Carrowkeel, Sligo, Ireland
Age: Late Neolithic 3014-2891 cal BC
Y-DNA: I-Y3709
FTDNA Comment: One of 12 ancient samples currently on this branch
mtDNA: J1c3

One current sample from Portugal.

Sample: Carrowkeel534 / CAK534 (Cassidy et al. 2020)
Sex: Male
Location: Carrowkeel, Sligo, Ireland
Age: Neolithic None
Y-DNA: I-M284
mtDNA: X2b4

This branch has several subclades as well as people from Ireland, Scotland, England, British Isles, Germany, France, Denmark, Northern Ireland and Norway.

Sample: Carrowkeel68 / CAK68 (Cassidy et al. 2020)
Sex: Male
Location: Carrowkeel, Sligo, Ireland
Age: Late Neolithic 2833-2469 cal BC
Y-DNA: I-Y3709
FTDNA Comment: One of 12 ancient samples currently on this branch
mtDNA: H

Sample: Cohaw448 / CH448 (Cassidy et al. 2020)
Sex: Male
Location: Cohaw, Cavan, Ireland
Age: Middle Neolithic 3652-3384 cal BC
Y-DNA: I-L1498
mtDNA: H1

This branch has 129 subbranches and men from England, Ireland, UK, France, Germany, Czech Republic, Norway, Northern Ireland and Scotland.

Sample: Glennamong1007 / GNM1007 (Cassidy et al. 2020)
Sex: Male
Location: Glennamong, Mayo, Ireland
Age: Middle Neolithic 3507-3106 cal BC
Y-DNA: I-Y3713
FTDNA Comment: Joins VK280
mtDNA: K1a-T195C!

Branch has 42 subbranches and men from Ireland, England, Scotland, France, and Germany. I wrote about VK280, a Viking skeleton from Denmark, here.

Sample: Glennamong1076 / GNM1076 (Cassidy et al. 2020)
Sex: Male
Location: Glennamong, Mayo, Ireland
Age: Middle Neolithic 3364-2940 cal BC
Y-DNA: I-Y3709
FTDNA Comment: One of 12 ancient samples currently on this branch
mtDNA: H1c

Sample: MillinBay6 / MB6 (Cassidy et al. 2020)
Sex: Male
Location: Millin Bay (Keentagh Td.), Down, Ireland
Age: Middle Neolithic 3495-3040 cal BC
Y-DNA: I-L1193
FTDNA Comment: One of 6 ancient samples currently on this branch
mtDNA: J1c3

Branch has 51 subbranches and men from Ireland and England.

Sample: Jerpoint14 / JP14 (Cassidy et al. 2020)
Sex: Male
Location: Jerpoint West, Kilkenny, Ireland
Age: Middle Neolithic 3694-3369 cal BC
Y-DNA: H-FT362000
FTDNA Comment: Baunogenasraid72 and Jerpoint14 split the H-SK1180 branch and form branch together (H-FT362000). Several other additional ancient samples belong to this branch as well including FLR001, FLR002, FLR004, GRG022, GRG041 (Rivollat 2020), and BUCH2 (Brunel 2020)
mtDNA: T2c1d1

Sample: Newgrange10 / NG10 (Cassidy et al. 2020)
Sex: Male
Location: Newgrange, Main Chamber, Meath, Ireland
Age: Middle Neolithic 3338-3028 cal BC
Y-DNA: I-Y3709
FTDNA Comment: One of 12 ancient samples currently on this branch
mtDNA: U5b1-T16189C!-T16192C!

Sample: Parknabinnia1327 / PB1327 (Cassidy et al. 2020)
Sex: Male
Location: Parknabinnia, Clare, Ireland
Age: Middle Neolithic 3631-3353 cal BC
Y-DNA: I-Y3712
FTDNA Comment: One of 15 ancient samples currently on this branch
mtDNA: T2b3

Sample: Parknabinnia443 / PB443 (Cassidy et al. 2020)
Sex: Male
Location: Parknabinnia, Clare, Ireland
Age: Middle Neolithic 3636-3378 cal BC
Y-DNA: I-FT354500
FTDNA Comment: Ardcroney2 and Parknabinnia443 split the I2-Y13518 branch and form a branch together (I-FT354500). Additional ancient samples residing on I-Y13518 include I2637, I2979, I6759, and Kelco_cave
mtDNA: K1b1a1

Sample: Parknabinnia581 / PB581 (Cassidy et al. 2020)
Sex: Male
Location: Parknabinnia, Clare, Ireland
Age: Middle Neolithic 3631-3362 cal BC
Y-DNA: I-L1193
FTDNA Comment: One of 6 ancient samples currently on this branch
mtDNA: T2b

Sample: Poulnabrone02 / PN02 (Cassidy et al. 2020)
Sex: Male
Location: Poulnabrone, Clare, Ireland
Age: Early-Middle Neolithic 3704-3522 cal BC
Y-DNA: I-Y3712
FTDNA Comment: One of 15 ancient samples currently on this branch
mtDNA: U5b1c1

Sample: Poulnabrone03 / PN03 (Cassidy et al. 2020)
Sex: Male
Location: Poulnabrone, Clare, Ireland
Age: Middle Neolithic 3635-3376 cal BC
Y-DNA: I-Y3709
FTDNA Comment: One of 12 ancient samples currently on this branch
mtDNA: K1a1

Sample: Poulnabrone04 / PN04 (Cassidy et al. 2020)
Sex: Male
Location: Poulnabrone, Clare, Ireland
Age: Early Neolithic 3944-3665 cal BC
Y-DNA: I-Y3709
FTDNA Comment: One of 12 ancient samples currently on this branch
mtDNA: H1-T16189C!

Sample: Poulnabrone05 / PN05 (Cassidy et al. 2020)
Sex: Male
Location: Poulnabrone, Clare, Ireland
Age: Early Neolithic 3941-3661 cal BC
Y-DNA: I-L1193
FTDNA Comment: One of 6 ancient samples currently on this branch
mtDNA: K1a-T195C!

Sample: Poulnabrone07 / PN07 (Cassidy et al. 2020)
Sex: Male
Location: Poulnabrone, Clare, Ireland
Age: Middle Neolithic 3629-3371 cal BC
Y-DNA: I-FT370113
FTDNA Comment: Forms a branch with Raschoille_1 (Brace 2019) and I3041 (Olalde 2018). Other relevant ancient samples are Carsington_Pasture_1, I3134, I7638 at I-BY166411, and Coldrum_1 and I2660 at I-BY168618. These 8 ancients all group with two modern men, 1 from Ireland and 1 of unknown origins.
mtDNA: U5b1c

Sample: Poulnabrone107 / PN107 (Cassidy et al. 2020)
Sex: Male
Location: Poulnabrone, Clare, Ireland
Age: Early Neolithic 3926-3666 cal BC
Y-DNA: I-Y3709
FTDNA Comment: One of 12 ancient samples currently on this branch
mtDNA: U4a2f

Sample: Poulnabrone112 / PN112 (Cassidy et al. 2020)
Sex: Male
Location: Poulnabrone, Clare, Ireland
Age: Early-Middle Neolithic 3696-3535 cal BC
Y-DNA: I-Y3709
FTDNA Comment: One of 12 ancient samples currently on this branch
mtDNA: U5b2b

Sample: Poulnabrone12 / PN12 (Cassidy et al. 2020)
Sex: Male
Location: Poulnabrone, Clare, Ireland
Age: Middle Neolithic 3621-3198 cal BC
Y-DNA: I-Y3709
FTDNA Comment: One of 12 ancient samples currently on this branch
mtDNA: H

Sample: Poulnabrone13 / PN13 (Cassidy et al. 2020)
Sex: Male
Location: Poulnabrone, Clare, Ireland
Age: Early-Middle Neolithic 3704-3536 cal BC
Y-DNA: I-S2639
mtDNA: V

Branch has 172 subclades.

Sample: Carrowkeel530 / CAK530 (Cassidy et al. 2020)
Sex: Female
Location: Carrowkeel, Sligo, Ireland
Age: Late Neolithic 2883-2634 cal BC
mtDNA: W5b

Sample: Carrowkeel533 / CAK533 (Cassidy et al. 2020)
Sex: Female
Location: Carrowkeel, Sligo, Ireland
Age: Late Neolithic 3085-2904 cal BC
mtDNA: H

Sample: NewgrangeZ1 / NGZ1 (Cassidy et al. 2020)
Sex: Female
Location: Site Z, Newgrange, Meath, Ireland
Age: Middle Neolithic 3320-2922 cal BC
mtDNA: X2b-T226C

Sample: Parknabinnia1794 / PB1794 (Cassidy et al. 2020)
Sex: Female
Location: Parknabinnia, Clare, Ireland
Age: Middle Neolithic 3647-3377 cal BC
mtDNA: J1c6

Sample: Parknabinnia357 / PB357 (Cassidy et al. 2020)
Sex: Female
Location: Parknabinnia, Clare, Ireland
Age: Early-Middle Neolithic 3640-3381 cal BC; 3774-3642 cal BC
mtDNA: U8b1b

Sample: Parknabinnia754 / PB754 (Cassidy et al. 2020)
Sex: Female
Location: Parknabinnia, Clare, Ireland
Age: Middle Neolithic 3617-3138 cal BC
mtDNA: U5b2a3

Sample: Poulnabrone10_113 / PN113 (Cassidy et al. 2020)
Sex: Female
Location: Poulnabrone, Clare, Ireland
Age: Early Neolithic 3940-3703 cal BC
mtDNA: H4a1a1a

Sample: Poulnabrone16 / PN16 (Cassidy et al. 2020)
Sex: Female
Location: Poulnabrone, Clare, Ireland
Age: Middle Neolithic 3633-3374 cal BC
mtDNA: K1b1a1

So, how about it? Do you match?

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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….

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