Top Ten RootsTech 2022 DNA Sessions + All DNA Session Links

The official dates of RootsTech 2022 were March 3-5, but the sessions and content in the vendor booths are still available. I’ve compiled a list of the sessions focused on DNA, with web links on the RootsTech YouTube channel

YouTube reports the number of views, so I was able to compile that information as of March 8, 2022.

I do want to explain a couple of things to add context to the numbers.

Most speakers recorded their sessions, but a few offered live sessions which were recorded, then posted later for participants to view. However, there have been glitches in that process. While the sessions were anticipated to be available an hour or so later, that didn’t quite happen, and a couple still aren’t posted. I’m sure the presenters are distressed by this, so be sure to watch those when they are up and running.

The Zoom rooms where participants gathered for the live sessions were restricted to 500 attendees. The YouTube number of views does not include the number of live viewers, so you’ll need to add an additional number, up to 500.

When you see a number before the session name, whether recorded or live, that means that the session is part of a series. RootsTech required speakers to divide longer sessions into a series of shorter sessions no longer than 15-20 minutes each. The goal was for viewers to be able to watch the sessions one after the other, as one class, or separately, and still make sense of the content. Let’s just say this was the most challenging thing I’ve ever done as a presenter.

For recorded series sessions, these are posted as 1, 2 and 3, as you can see below with Diahan Southard’s sessions. However, with my live session series, that didn’t happen. It looks like my sessions are a series, but when you watch them, parts 1, 2 and 3 are recorded and presented as one session. Personally, I’m fine with this, because I think the information makes a lot more sense this way. However, it makes comparisons difficult.

This was only the second year for RootsTech to be virtual and the conference is absolutely HUGE, so live and learn. Next year will be smoother and hopefully, at least partially in-person too.

When I “arrived” to present my live session, “Associating Autosomal DNA Segments With Ancestors,” my lovely moderator, Rhett, told me that they were going to livestream my session to the RootsTech page on Facebook as well because they realized that the 500 Zoom seat limit had been a problem the day before with some popular sessions. I have about 9000 views for that session and more than 7,400 of them are on the RootsTech Facebook page – and that was WITHOUT any advance notice or advertising. I know that the Zoom room was full in addition. I felt kind of strange about including my results in the top ten because I had that advantage, but I didn’t know quite how to otherwise count my session. As it turns out, all sessions with more than 1000 views made it into the top ten so mine would have been there one way or another. A big thank you to everyone who watched!

I hope that the RootsTech team notices that the most viewed session is the one that was NOT constrained by the 500-seat limited AND was live-streamed on Facebook. Seems like this might be a great way to increase session views for everyone next year. Hint, hint!!!

I also want to say a huge thank you to all of the presenters for producing outstanding content. The sessions were challenging to find, plus RootsTech is always hectic, even virtually. So, I know a LOT of people will want to view these informative sessions, now that you know where to look and have more time. Please remember to “like” the session on YouTube as a way of thanking your presenter.

With 140 DNA-focused sessions available, you can watch a new session, and put it to use, every other day for the next year! How fun is that! You can use this article as your own playlist.

Please feel free to share this article with your friends and genealogy groups so everyone can learn more about using DNA for genealogy.

Ok, let’s look at the top 10. Drum roll please…

Top 10 Most Viewed RootsTech Sessions

Session Title Presenter YouTube Link Views
1 1. Associating Autosomal DNA Segments With Ancestors Roberta Estes (live) https://www.youtube.com/watch?v=_IHSCkNnX48

 

~9000: 1019 + 500 live viewers + 7,400+ Facebook
2 1. What to Do with Your DNA Test Results in 2022 (part 1 of 3) Diahan Southard https://www.youtube.com/watch?v=FENAKAYLXX4 7428
3 Who Is FamilyTreeDNA? FamilyTreeDNA – Bennett Greenspan https://www.youtube.com/watch?v=MHFtwoatJ-A 2946
4 2. What to Do with Your DNA Test Results in 2022 (part 2 of 3) Diahan Southard https://www.youtube.com/watch?v=mIllhtONhlI 2448
5 Latest DNA Painter Releases DNAPainter Jonny Perl (live) https://www.youtube.com/watch?v=iLBThU8l33o 2230 + live viewers
6 DNA Painter Introduction DNAPainter – Jonny Perl https://www.youtube.com/watch?v=Rpe5LMPNmf0 1983
7 3. What to Do with Your DNA Test Results in 2022 (part 3 of 3) Diahan Southard https://www.youtube.com/watch?v=hemY5TuLmGI 1780
8 The Tree of Mankind Age Estimates Paul Maier https://www.youtube.com/watch?v=jjkL8PWAEwk 1638
9 A Sneak Peek at FamilyTreeDNA Coming Attractions FamilyTreeDNA (live) https://www.youtube.com/watch?v=K9sKqNScvnE 1270 + live viewers

 

10 Extending Time Horizons with DNA Rob Spencer (live) https://www.youtube.com/watch?v=wppXD1Zz2sQ 1037 + live viewers

 

All DNA-Focused Sessions

I know you’ll find LOTS of goodies here. Which ones are your favorites?

  Session Presenter YouTube Link Views
1 Estimating Relationships by Combining DNA from Multiple Siblings Amy Williams https://www.youtube.com/watch?v=xs1U0ohpKSA 201
2 Overview of HAPI-DNA.org Amy Williams https://www.youtube.com/watch?v=FjNiJgWaBeQ 126
3 How do AncestryDNA® Communities help tell your story? | Ancestry® Ancestry https://www.youtube.com/watch?v=EQNpUxonQO4 183

 

4 AncestryDNA® 201 Ancestry – Crista Cowan https://www.youtube.com/watch?v=lbqpnXloM5s

 

494
5 Genealogy in a Minute: Increase Discoveries by Attaching AncestryDNA® Results to Family Tree Ancestry – Crista Cowan https://www.youtube.com/watch?v=iAqwSCO8Pvw 369
6 AncestryDNA® 101: Beginner’s Guide to AncestryDNA® | Ancestry® Ancestry – Lisa Elzey https://www.youtube.com/watch?v=-N2usCR86sY 909
7 Hidden in Plain Sight: Free People of Color in Your Family Tree Cheri Daniels https://www.youtube.com/watch?v=FUOcdhO3uDM 179
8 Finding Relatives to Prevent Hereditary Cancer ConnectMyVariant – Dr. Brian Shirts https://www.youtube.com/watch?v=LpwLGgEp2IE 63
9 Piling on the chromosomes Debbie Kennett https://www.youtube.com/watch?v=e14lMsS3rcY 465
10 Linking Families With Rare Genetic Condition Using Genealogy Deborah Neklason https://www.youtube.com/watch?v=b94lUfeAw9k 43
11 1. What to Do with Your DNA Test Results in 2022 Diahan Southard https://www.youtube.com/watch?v=FENAKAYLXX4 7428
12 1. What to Do with Your DNA Test Results in 2022 Diahan Southard https://www.youtube.com/watch?v=hemY5TuLmGI 1780
13 2. What to Do with Your DNA Test Results in 2022 Diahan Southard https://www.youtube.com/watch?v=mIllhtONhlI 2448
14 DNA Testing For Family History Diahan Southard https://www.youtube.com/watch?v=kCLuOCC924s 84

 

15 Understanding Your DNA Ethnicity Estimate at 23andMe Diana Elder

 

https://www.youtube.com/watch?v=xT1OtyvbVHE 66
16 Understanding Your Ethnicity Estimate at FamilyTreeDNA Diana Elder https://www.youtube.com/watch?v=XosjViloVE0 73
17 DNA Monkey Wrenches Katherine Borges https://www.youtube.com/watch?v=Thv79pmII5M 245
18 Advanced Features in your Ancestral Tree and Fan Chart DNAPainter – Jonny Perl https://www.youtube.com/watch?v=4u5Vf13ZoAc 425
19 DNA Painter Introduction DNAPainter – Jonny Perl https://www.youtube.com/watch?v=Rpe5LMPNmf0 1983
20 Getting Segment Data from 23andMe DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=8EBRI85P3KQ 134
21 Getting segment data from FamilyTreeDNA DNA matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=rWnxK86a12U 169
22 Getting segment data from Gedmatch DNA matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=WF11HEL8Apk 163
23 Getting segment data from Geneanet DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=eclj8Ap0uK4 38
24 Getting segment data from MyHeritage DNA matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=9rGwOtqbg5E 160
25 Inferred Chromosome Mapping: Maximize your DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=tzd5arHkv64 688
26 Keeping track of your genetic family tree in a fan chart DNAPainter – Jonny Perl https://www.youtube.com/watch?v=W3Hcno7en94 806

 

27 Mapping a DNA Match in a Chromosome Map DNAPainter – Jonny Perl https://www.youtube.com/watch?v=A61zQFBWaiY 423
28 Setting up an Ancestral Tree and Fan Chart and Exploring Tree Completeness DNAPainter – Jonny Perl https://www.youtube.com/watch?v=lkJp5Xk1thg 77
29 Using the Shared cM Project Tool to Evaluate DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=vxhn9l3Dxg4 763
30 Your First Chromosome Map: Using your DNA Matches to Link Segments to Ancestors DNAPainter – Jonny Perl https://www.youtube.com/watch?v=tzd5arHkv64 688
31 DNA Painter for absolute beginners DNAPainter (Jonny Perl) https://www.youtube.com/watch?v=JwUWW4WHwhk 1196
32 Latest DNA Painter Releases DNAPainter (live) https://www.youtube.com/watch?v=iLBThU8l33o 2230 + live viewers
33 Unraveling your genealogy with DNA segment networks using AutoSegment from Genetic Affairs Evert-Jan Blom https://www.youtube.com/watch?v=rVpsJSqOJZI

 

162
34 Unraveling your genealogy with genetic networks using AutoCluster Evert-Jan Blom https://www.youtube.com/watch?v=ZTKSz_X7_zs 201

 

 

35 Unraveling your genealogy with reconstructed trees using AutoTree & AutoKinship from Genetic Affairs Evert-Jan Blom https://www.youtube.com/watch?v=OmDQoAn9tVw 143
36 Research Like a Pro with DNA – A Genealogist’s Guide to Finding and Confirming Ancestors with DNA Family Locket Genealogists https://www.youtube.com/watch?v=NYpLscJJQyk 183
37 How to Interpret a DNA Network Graph Family Locket Genealogists – Diana Elder https://www.youtube.com/watch?v=i83WRl1uLWY 393
38 Find and Confirm Ancestors with DNA Evidence Family Locket Genealogists – Nicole Dyer https://www.youtube.com/watch?v=DGLpV3aNuZI 144
39 How To Make A DNA Network Graph Family Locket Genealogists – Nicole Dyer https://www.youtube.com/watch?v=MLm_dVK2kAA 201
40 Create A Family Tree With Your DNA Matches-Use Lucidchart To Create A Picture Worth A Thousand Words Family Locket Genealogists – Robin Wirthlin https://www.youtube.com/watch?v=RlRIzcW-JI4 270
41 Charting Companion 7 – DNA Edition Family Tree Maker https://www.youtube.com/watch?v=k2r9rkk22nU 316

 

42 Family Finder Chromosome Browser: How to Use FamilyTreeDNA https://www.youtube.com/watch?v=w0_tgopBn_o 750

 

 

43 FamilyTreeDNA: 22 Years of Breaking Down Brick Walls FamilyTreeDNA https://www.familysearch.org/rootstech/session/familytreedna-22-years-of-breaking-down-brick-walls Not available
44 Review of Autosomal DNA, Y-DNA, & mtDNA FamilyTreeDNA  – Janine Cloud https://www.youtube.com/watch?v=EJoQVKxgaVY 77
45 Who Is FamilyTreeDNA? FamilyTreeDNA – Bennett Greenspan https://www.youtube.com/watch?v=MHFtwoatJ-A 2946
46 Part 1: How to Interpret Y-DNA Results, A Walk Through the Big Y FamilyTreeDNA – Casimir Roman https://www.youtube.com/watch?v=ra1cjGgvhRw 684

 

47 Part 2: How to Interpret Y-DNA Results, A Walk Through the Big Y FamilyTreeDNA – Casimir Roman https://www.youtube.com/watch?v=CgqcjBD6N8Y

 

259
48 Big Y-700: A Brief Overview FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=IefUipZcLCQ 96
49 Mitochondrial DNA & The Million Mito Project FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=5Zppv2uAa6I 179
50 Mitochondrial DNA: What is a Heteroplasmy FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=ZeGTyUDKySk 57
51 Y-DNA Big Y: A Lifetime Analysis FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=E6NEU92rpiM 154
52 Y-DNA: How SNPs Are Added to the Y Haplotree FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=CGQaYcroRwY 220
53 Family Finder myOrigins: Beginner’s Guide FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=VrJNpSv8nlA 88
54 Mitochondrial DNA: Matches Map & Results for mtDNA FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=YtA1j01MOvs 190
55 Mitochondrial DNA: mtDNA Mutations Explained FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=awPs0cmZApE 340

 

56 Y-DNA: Haplotree and SNPs Page Overview FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=FOuVhoMD-hw 432
57 Y-DNA: Understanding the Y-STR Results Page FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=gCeZz1rQplI 148
58 Y-DNA: What Is Genetic Distance? FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=qJ6wY6ILhfg 149
59 DNA Tools: myOrigins 3.0 Explained, Part 1 FamilyTreeDNA – Paul Maier https://www.youtube.com/watch?v=ACgY3F4-w78 74

 

60 DNA Tools: myOrigins 3.0 Explained, Part 2 FamilyTreeDNA – Paul Maier https://www.youtube.com/watch?v=h7qU36bIFg0 50
61 DNA Tools: myOrigins 3.0 Explained, Part 3 FamilyTreeDNA – Paul Maier https://www.youtube.com/watch?v=SWlGPm8BGyU 36
62 African American Genealogy Research Tips FamilyTreeDNA – Sherman McRae https://www.youtube.com/watch?v=XdbkM58rXIQ 153

 

63 Connecting With My Ancestors Through Y-DNA FamilyTreeDNA – Sherman McRae https://www.youtube.com/watch?v=xbo1XnLkuQU 200
64 Join The Million Mito Project FamilyTreeDNA (Join link) https://www.familysearch.org/rootstech/session/join-the-million-mito-project link
65 View the World’s Largest mtDNA Haplotree FamilyTreeDNA (Link to mtDNA tree) https://www.familytreedna.com/public/mt-dna-haplotree/L n/a
66 View the World’s Largest Y Haplotree FamilyTreeDNA (Link to Y tree) https://www.familytreedna.com/public/y-dna-haplotree/A link
67 A Sneak Peek at FamilyTreeDNA Coming Attractions FamilyTreeDNA (live) https://www.youtube.com/watch?v=K9sKqNScvnE 1270 + live viewers

 

68 DNA Upload: How to Transfer Your Autosomal DNA Data FamilyTreeDNA -Katy Rowe https://www.youtube.com/watch?v=CS-rH_HrGlo 303
69 Family Finder myOrigins: How to Compare Origins With Your DNA Matches FamilyTreeDNA -Katy Rowe https://www.youtube.com/watch?v=7mBmWhM4j9Y 145
70 Join Group Projects at FamilyTreeDNA FamilyTreeDNA link to learning center article) https://www.familysearch.org/rootstech/session/join-group-projects-at-familytreedna link

 

71 Product Demo – Unraveling your genealogy with reconstructed trees using AutoKinship GEDmatch https://www.youtube.com/watch?v=R7_W0FM5U7c 803
72 Towards a Genetic Genealogy Driven Irish Reference Genome Gerard Corcoran https://www.youtube.com/watch?v=6Kx8qeNiVmo 155

 

73 Discovering Biological Origins in Chile With DNA: Simple Triangulation Gonzalo Alexis Luengo Orellana https://www.youtube.com/watch?v=WcVby54Uigc 40
74 Cousin Lynne: An Adoption Story International Association of Jewish Genealogical Societies https://www.youtube.com/watch?v=AptMcV4_B4o 111
75 Using DNA Testing to Uncover Native Ancestry Janine Cloud https://www.youtube.com/watch?v=edzebJXepMA 205
76 1. Forensic Genetic Genealogy Jarrett Ross https://www.youtube.com/watch?v=0euIDZTmx5g 58
77 Reunited and it Feels so Good Jennifer Mendelsohn https://www.youtube.com/watch?v=X-hxjm7grBE 57

 

78 Genealogical Research and DNA Testing: The Perfect Companions Kimberly Brown https://www.youtube.com/watch?v=X82jA3xUVXk 80
79 Finding a Jewish Sperm Donor Kitty Munson Cooper https://www.youtube.com/watch?v=iKRjFfNcpug 164
80 Using DNA in South African Genealogy Linda Farrell https://www.youtube.com/watch?v=HXkbBWmORM0 141
81 Using DNA Group Projects In Your Family History Research Mags Gaulden https://www.youtube.com/watch?v=0tX7QDib4Cw 165
82 2. The Expansion of Genealogy Into Forensics Marybeth Sciaretta https://www.youtube.com/watch?v=HcEO-rMe3Xo 35

 

83 DNA Interest Groups That Keep ’em Coming Back McKell Keeney (live) https://www.youtube.com/watch?v=HFwpmtA_QbE 180 plus live viewers
84 Searching for Close Relatives with Your DNA Results Mckell Keeney (live) https://www.familysearch.org/rootstech/session/searching-for-close-relatives-with-your-dna-results Not yet available
85 Top Ten Reasons To DNA Test For Family History Michelle Leonard https://www.youtube.com/watch?v=1B9hEeu_dic 181
86 Top Tips For Identifying DNA Matches Michelle Leonard https://www.youtube.com/watch?v=-3Oay_btNAI 306
87 Maximising Messages Michelle Patient https://www.youtube.com/watch?v=4TRmn0qzHik 442
88 How to Filter and Sort Your DNA Matches MyHeritage https://www.youtube.com/watch?v=fmIgamFDvc8 88
89 How to Get Started with Your DNA Matches MyHeritage https://www.youtube.com/watch?v=JPOzhTxhU0E 447

 

90 How to Track DNA Kits in MyHeritage` MyHeritage https://www.youtube.com/watch?v=2W0zBbkBJ5w 28

 

91 How to Upload Your DNA Data to MyHeritage MyHeritage https://www.youtube.com/watch?v=nJ4RoZOQafY 82
92 How to Use Genetic Groups MyHeritage https://www.youtube.com/watch?v=PtDAUHN-3-4 62
My Story: Hope MyHeritage https://www.youtube.com/watch?v=qjyggKZEXYA 133
93 MyHeritage Keynote, RootsTech 2022 MyHeritage https://www.familysearch.org/rootstech/session/myheritage-keynote-rootstech-2022 Not available
94 Using Labels to Name Your DNA Match List MyHeritage https://www.youtube.com/watch?v=enJjdw1xlsk 139

 

95 An Introduction to DNA on MyHeritage MyHeritage – Daniel Horowitz https://www.youtube.com/watch?v=1I6LHezMkgc 60
96 Using MyHeritage’s Advanced DNA Tools to Shed Light on Your DNA Matches MyHeritage – Daniel Horowitz https://www.youtube.com/watch?v=Pez46Xw20b4 110
97 You’ve Got DNA Matches! Now What? MyHeritage – Daniel Horowitz https://www.youtube.com/watch?v=gl3UVksA-2E 260
98 My Story: Lizzie and Ayla MyHeritage – Elizbeth Shaltz https://www.youtube.com/watch?v=NQv6C8G39Kw 147
99 My Story: Fernando and Iwen MyHeritage – Fernando Hermansson https://www.youtube.com/watch?v=98-AR0M7fFE 165

 

100 Using the Autocluster and the Chromosome Browser to Explore Your DNA Matches MyHeritage – Gal Zruhen https://www.youtube.com/watch?v=a7aQbfP7lWU 115

 

101 My Story : Kara Ashby Utah Wedding MyHeritage – Kara Ashby https://www.youtube.com/watch?v=Qbr_gg1sDRo 200
102 When Harry Met Dotty – using DNA to break down brick walls Nick David Barratt https://www.youtube.com/watch?v=8SdnLuwWpJs 679
103 How to Add a DNA Match to Airtable Nicole Dyer https://www.youtube.com/watch?v=oKxizWIOKC0 161
104 How to Download DNA Match Lists with DNAGedcom Client Nicole Dyer https://www.youtube.com/watch?v=t9zTWnwl98E 124
105 How to Know if a Matching DNA Segment is Maternal or Paternal Nicole Dyer https://www.youtube.com/watch?v=-zd5iat7pmg 161
106 DNA Basics Part I Centimorgans and Family Relationships Origins International, Inc. dba Origins Genealogy https://www.youtube.com/watch?v=SI1yUdnSpHA 372
107 DNA Basics Part II Clustering and Connecting Your DNA Matches Origins International, Inc. dba Origins Genealogy https://www.youtube.com/watch?v=ECs4a1hwGcs 333
108 DNA Basics Part III Charting Your DNA Matches to Get Answers Origins International, Inc. dba Origins Genealogy https://www.youtube.com/watch?v=qzybjN0JBGY 270
109 2. Using Cluster Auto Painter Patricia Coleman https://www.youtube.com/watch?v=-nfLixwxKN4 691
110 3. Using Online Irish Records Patricia Coleman https://www.youtube.com/watch?v=mZsB0l4z4os 802
111 Exploring Different Types of Clusters Patricia Coleman https://www.youtube.com/watch?v=eEZBFPC8aL4 972

 

112 The Million Mito Project: Growing the Family Tree of Womankind Paul Maier https://www.youtube.com/watch?v=cpctoeKb0Kw 541
113 The Tree of Mankind Age Estimates Paul Maier https://www.youtube.com/watch?v=jjkL8PWAEwk 1638
114 Y-DNA and Mitochondrial DNA Testing Plans Paul Woodbury https://www.youtube.com/watch?v=akymSm0QKaY 168
115 Finding Biological Family Price Genealogy https://www.youtube.com/watch?v=4xh-r3hZ6Hw 137
116 What Y-DNA Testing Can Do for You Richard Hill https://www.youtube.com/watch?v=a094YhIY4HU 191
117 Extending Time Horizons with DNA Rob Spencer (live) https://www.youtube.com/watch?v=wppXD1Zz2sQ 1037 + live viewers
118 DNA for Native American Ancestry by Roberta Estes Roberta Estes https://www.youtube.com/watch?v=EbNyXCFfp4M 212
119 1. Associating Autosomal DNA Segments With Ancestors Roberta Estes (live) https://www.youtube.com/watch?v=_IHSCkNnX48

 

~9000: 1019 + 500 live viewers + 7,400+ Facebook
120 1. What Can I Do With Ancestral DNA Segments? Roberta Estes (live) https://www.youtube.com/watch?v=Suv3l4iZYAQ 325 plus live viewers

 

121 Native American DNA – Ancient and Contemporary Maps Roberta Estes (live) https://www.youtube.com/watch?v=dFTl2vXUz_0 212 plus 483 live viewers

 

122 How Can DNA Enhance My Family History Research? Robin Wirthlin https://www.youtube.com/watch?v=f3KKW-U2P6w 102
123 How to Analyze a DNA Match Robin Wirthlin https://www.youtube.com/watch?v=LTL8NbpROwM 367
124 1. Jewish Ethnicity & DNA: History, Migration, Genetics Schelly Talalay Dardashti https://www.youtube.com/watch?v=AIJyphGEZTA 82

 

125 2. Jewish Ethnicity & DNA: History, Migration, Genetics Schelly Talalay Dardashti https://www.youtube.com/watch?v=VM3MCYM0hkI 72
126 Ask us about DNA Talking Family History (live) https://www.youtube.com/watch?v=kv_RfR6OPpU 96 plus live viewers
127 1. An Introduction to Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=WNhErW5UVKU

 

183
128 2. An Introduction to Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=CRpQ8EVOShI 110

 

129 Common Problems When Doing Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=hzFxtBS5a8Y 68
130 Cross Visual Phasing to Go Back Another Generation Tanner Blair Tolman https://www.youtube.com/watch?v=MrrMqhfiwbs 64
131 DNA Basics Tanner Blair Tolman https://www.youtube.com/watch?v=OCMUz-kXNZc 155
132 DNA Painter and Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=2-eh1L4wOmQ 155
133 DNA Painter Part 2: Chromosome Mapping Tanner Blair Tolman https://www.youtube.com/watch?v=zgOJDRG7hJc 172
134 DNA Painter Part 3: The Inferred Segment Generator Tanner Blair Tolman https://www.youtube.com/watch?v=96ai8nM4lzo

 

100
135 DNA Painter Part 4: The Distinct Segment Generator Tanner Blair Tolman https://www.youtube.com/watch?v=Pu-WIEQ_8vc 83
136 DNA Painter Part 5: Ancestral Trees Tanner Blair Tolman https://www.youtube.com/watch?v=dkYDeFLduKA 73
137 Understanding Your DNA Ethnicity Results Tanner Blair Tolman https://www.youtube.com/watch?v=4tAd8jK6Bgw 518
138 What’s New at GEDmatch Tim Janzen https://www.youtube.com/watch?v=AjA59BG_cF4

 

515
139 What Does it Mean to Have Neanderthal Ancestry? Ugo Perego https://www.youtube.com/watch?v=DshCKDW07so 190
140 Big Y-700 Your DNA Guide https://www.youtube.com/watch?v=rIFC69qswiA 143
141 Next Steps with Your DNA Your DNA Guide – Diahan Southard (live) https://www.familysearch.org/rootstech/session/next-steps-with-your-dna Not yet available

Additions:

142  Adventures of an Amateur Genetic Genealogist – Geoff Nelson https://www.familysearch.org/rootstech/session/adventures-of-an-amateur-genetic-genealogist     291 views

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2018 – The Year of the Segment

Looking in the rear view mirror, what a year! Some days it’s been hard to catch your breath things have been moving so fast.

What were the major happenings, how did they affect genetic genealogy and what’s coming in 2019?

The SNiPPY Award

First of all, I’m giving an award this year. The SNiPPY.

Yea, I know it’s kinda hokey, but it’s my way of saying a huge thank you to someone in this field who has made a remarkable contribution and that deserves special recognition.

Who will it be this year?

Drum roll…….

The 2018 SNiPPY goes to…

DNAPainter – The 2018 SNiPPY award goes to DNAPainter, without question. Applause, everyone, applause! And congratulations to Jonny Perl, pictured below at Rootstech!

Jonny Perl created this wonderful, visual tool that allows you to paint your matches with people on your chromosomes, assigning the match to specific ancestors.

I’ve written about how to use the tool  with different vendors results and have discovered many different ways to utilize the painted segments. The DNA Painter User Group is here on Facebook. I use DNAPainter EVERY SINGLE DAY to solve a wide variety of challenges.

What else has happened this year? A lot!

Ancient DNA – Academic research seldom reports on Y and mitochondrial DNA today and is firmly focused on sequencing ancient DNA. Ancient genome sequencing has only recently been developed to a state where at least some remains can be successfully sequenced, but it’s going great guns now. Take a look at Jennifer Raff’s article in Forbes that discusses ancient DNA findings in the Americas, Europe, Southeast Asia and perhaps most surprising, a first generation descendant of a Neanderthal and a Denisovan.

From Early human dispersals within the Americas by Moreno-Mayer et al, Science 07 Dec 2018

Inroads were made into deeper understanding of human migration in the Americas as well in the paper Early human dispersals within the Americas by Moreno-Mayer et al.

I look for 2019 and on into the future to hold many more revelations thanks to ancient DNA sequencing as well as using those sequences to assist in understanding the migration patterns of ancient people that eventually became us.

Barbara Rae-Venter and the Golden State Killer Case

Using techniques that adoptees use to identify their close relatives and eventually, their parents, Barbara Rae-Venter assisted law enforcement with identifying the man, Joseph DeAngelo, accused (not yet convicted) of being the Golden State Killer (GSK).

A very large congratulations to Barbara, a retired patent attorney who is also a genealogist. Nature recognized Ms. Rae-Venter as one of 2018’s 10 People Who Mattered in Science.

DNA in the News

DNA is also represented on the 2018 Nature list by Viviane Slon, a palaeogeneticist who discovered an ancient half Neanderthal, half Denisovan individual and sequenced their DNA and He JianKui, a Chinese scientist who claims to have created a gene-edited baby which has sparked widespread controversy. As of the end of the year, He Jiankui’s research activities have been suspended and he is reportedly sequestered in his apartment, under guard, although the details are far from clear.

In 2013, 23andMe patented the technology for designer babies and I removed my kit from their research program. I was concerned at the time that this technology knife could cut two ways, both for good, eliminating fatal disease-causing mutations and also for ethically questionable practices, such as eugenics. I was told at the time that my fears were unfounded, because that “couldn’t be done.” Well, 5 years later, here we are. I expect the debate about the ethics and eventual regulation of gene-editing will rage globally for years to come.

Elizabeth Warren’s DNA was also in the news when she took a DNA test in response to political challenges. I wrote about what those results meant scientifically, here. This topic became highly volatile and politicized, with everyone seeming to have a very strongly held opinion. Regardless of where you fall on that opinion spectrum (and no, please do not post political comments as they will not be approved), the topic is likely to surface again in 2019 due to the fact that Elizabeth Warren has just today announced her intention to run for President. The good news is that DNA testing will likely be discussed, sparking curiosity in some people, perhaps encouraging them to test. The bad news is that some of the discussion may be unpleasant at best, and incorrect click-bait at worst. We’ve already had a rather unpleasant sampling of this.

Law Enforcement and Genetic Genealogy

The Golden State Killer case sparked widespread controversy about using GedMatch and potentially other genetic genealogy data bases to assist in catching people who have committed violent crimes, such as rape and murder.

GedMatch, the database used for the GSK case has made it very clear in their terms and conditions that DNA matches may be used for both adoptees seeking their families and for other uses, such as law enforcement seeking matches to DNA sequenced during a criminal investigation. Since April 2018, more than 15 cold case investigations have been solved using the same technique and results at GedMatch. Initially some people removed their DNA from GedMatch, but it appears that the overwhelming sentiment, based on uploads, is that people either aren’t concerned or welcome the opportunity for their DNA matches to assist apprehending criminals.

Parabon Nanolabs in May established a genetic genealogy division headed by CeCe Moore who has worked in the adoptee community for the past several years. The division specializes in DNA testing forensic samples and then assisting law enforcement with the associated genetic genealogy.

Currently, GedMatch is the only vendor supporting the use of forensic sample matching. Neither 23anMe nor Ancestry allow uploaded data, and MyHeritage and Family Tree DNA’s terms of service currently preclude this type of use.

MyHeritage

Wow talk about coming onto the DNA world stage with a boom.

MyHeritage went from a somewhat wobbly DNA start about 2 years ago to rolling out a chromosome browser at the end of January and adding important features such as SmartMatching which matches your DNA and your family trees. Add triangulation to this mixture, along with record matching, and you’re got a #1 winning combination.

It was Gilad Japhet, the MyHeritage CEO who at Rootstech who christened 2018 “The Year of the Segment,” and I do believe he was right. Additionally, he announced that MyHeritage partnered with the adoption community by offering 15,000 free kits to adoptees.

In November, MyHeritage hosted MyHeritage LIVE, their first user conference in Oslo, Norway which focused on both their genealogical records offerings as well as DNA. This was a resounding success and I hope MyHeritage will continue to sponsor conferences and invest in DNA. You can test your DNA at MyHeritage or upload your results from other vendors (instructions here). You can follow my journey and the conference in Olso here, here, here, here and here.

GDPR

GDPR caused a lot of misery, and I’m glad the implementation is behind us, but the the ripples will be affecting everyone for years to come.

GDPR, the European Data Protection Regulation which went into effect on May 25,  2018 has been a mixed and confusing bag for genetic genealogy. I think the concept of users being in charge and understanding what is happened with their data, and in this case, their data plus their DNA, is absolutely sound. The requirements however, were created without any consideration to this industry – which is small by comparison to the Googles and Facebooks of the world. However, the Googles and Facebooks of the world along with many larger vendors seem to have skated, at least somewhat.

Other companies shut their doors or restricted their offerings in other ways, such as World Families Network and Oxford Ancestors. Vendors such as Ancestry and Family Tree DNA had to make unpopular changes in how their users interface with their software – in essence making genetic genealogy more difficult without any corresponding positive return. The potential fines, 20 million plus Euro for any company holding data for EU residents made it unwise to ignore the mandates.

In the genetic genealogy space, the shuttering of both YSearch and MitoSearch was heartbreaking, because that was the only location where you could actually compare Y STR and mitochondrial HVR1/2 results. Not everyone uploaded their results, and the sites had not been updated in a number of years, but the closure due to GDPR was still a community loss.

Today, mitoydna.org, a nonprofit comprised of genetic genealogists, is making strides in replacing that lost functionality, plus, hopefully more.

On to more positive events.

Family Tree DNA

In April, Family Tree DNA announced a new version of the Big Y test, the Big Y-500 in which at least 389 additional STR markers are included with the Big Y test, for free. If you’re lucky, you’ll receive between 389 and 439 new markers, depending on how many STR markers above 111 have quality reads. All customers are guaranteed a minimum of 500 STR markers in total. Matching was implemented in December.

These additional STR markers allow genealogists to assemble additional line marker mutations to more granularly identify specific male lineages. In other words, maybe I can finally figure out a line marker mutation that will differentiate my ancestor’s line from other sons of my founding ancestor😊

In June, Family Tree DNA announced that they had named more than 100,000 SNPs which means many haplogroup additions to the Y tree. Then, in September, Family Tree DNA published their Y haplotree, with locations, publicly for all to reference.

I was very pleased to see this development, because Family Tree DNA clearly has the largest Y database in the industry, by far, and now everyone can reap the benefits.

In October, Family Tree DNA published their mitochondrial tree publicly as well, with corresponding haplogroup locations. It’s nice that Family Tree DNA continues to be the science company.

You can test your Y DNA, mitochondrial or autosomal (Family Finder) at Family Tree DNA. They are the only vendor offering full Y and mitochondrial services complete with matching.

2018 Conferences

Of course, there are always the national conferences we’re familiar with, but more and more, online conferences are becoming available, as well as some sessions from the more traditional conferences.

I attended Rootstech in Salt Lake City in February (brrrr), which was lots of fun because I got to meet and visit with so many people including Mags Gaulden, above, who is a WikiTree volunteer and writes at Grandma’s Genes, but as a relatively expensive conference to attend, Rootstech was pretty miserable. Rootstech has reportedly made changes and I hope it’s much better for attendees in 2019. My attendance is very doubtful, although I vacillate back and forth.

On the other hand, the MyHeritage LIVE conference was amazing with both livestreamed and recorded sessions which are now available free here along with many others at Legacy Family Tree Webinars.

Family Tree University held a Virtual DNA Conference in June and those sessions, along with others, are available for subscribers to view.

The Virtual Genealogical Association was formed for those who find it difficult or impossible to participate in local associations. They too are focused on education via webinars.

Genetic Genealogy Ireland continues to provide their yearly conference sessions both livestreamed and recorded for free. These aren’t just for people with Irish genealogy. Everyone can benefit and I enjoy them immensely.

Bottom line, you can sit at home and educate yourself now. Technology is wonderful!

2019 Conferences

In 2019, I’ll be speaking at the National Genealogical Society Family History Conference, Journey of Discovery, in St. Charles, providing the Special Thursday Session titled “DNA: King Arthur’s Mighty Genetic Lightsaber” about how to use DNA to break through brick walls. I’ll also see attendees at Saturday lunch when I’ll be providing a fun session titled “Twists and Turns in the Genetic Road.” This is going to be a great conference with a wonderful lineup of speakers. Hope to see you there.

There may be more speaking engagements at conferences on my 2019 schedule, so stay tuned!

The Leeds Method

In September, Dana Leeds publicized The Leeds Method, another way of grouping your matches that clusters matches in a way that indicates your four grandparents.

I combine the Leeds method with DNAPainter. Great job Dana!

Genetic Affairs

In December, Genetic Affairs introduced an inexpensive subscription reporting and visual clustering methodology, but you can try it for free.

I love this grouping tool. I have already found connections I didn’t know existed previously. I suggest joining the Genetic Affairs User Group on Facebook.

DNAGedcom.com

I wrote an article in January about how to use the DNAGedcom.com client to download the trees of all of your matches and sort to find specific surnames or locations of their ancestors.

However, in December, DNAGedcom.com added another feature with their new DNAGedcom client just released that downloads your match information from all vendors, compiles it and then forms clusters. They have worked with Dana Leeds on this, so it’s a combination of the various methodologies discussed above. I have not worked with the new tool yet, as it has just been released, but Kitty Cooper has and writes about it here.  If you are interested in this approach, I would suggest joining the Facebook DNAGedcom User Group.

Rootsfinder

I have not had a chance to work with Rootsfinder beyond the very basics, but Rootsfinder provides genetic network displays for people that you match, as well as triangulated views. Genetic networks visualizations are great ways to discern patterns. The tool creates match or triangulation groups automatically for you.

Training videos are available at the website and you can join the Rootsfinder DNA Tools group at Facebook.

Chips and Imputation

Illumina, the chip maker that provides the DNA chips that most vendors use to test changed from the OmniExpress to the GSA chip during the past year. Older chips have been available, but won’t be forever.

The newer GSA chip is only partially compatible with the OmniExpress chip, providing limited overlap between the older and the new results. This has forced the vendors to use imputation to equalize the playing field between the chips, so to speak.

This has also caused a significant hardship for GedMatch who is now in the position of trying to match reasonably between many different chips that sometimes overlap minimally. GedMatch introduced Genesis as a sandbox beta version previously, but are now in the process of combining regular GedMatch and Genesis into one. Yes, there are problems and matching challenges. Patience is the key word as the various vendors and GedMatch adapt and improve their required migration to imputation.

DNA Central

In June Blaine Bettinger announced DNACentral, an online monthly or yearly subscription site as well as a monthly newsletter that covers news in the genetic genealogy industry.

Many educators in the industry have created seminars for DNACentral. I just finished recording “Getting the Most out of Y DNA” for Blaine.

Even though I work in this industry, I still subscribed – initially to show support for Blaine, thinking I might not get much out of the newsletter. I’m pleased to say that I was wrong. I enjoy the newsletter and will be watching sessions in the Course Library and the Monthly Webinars soon.

If you or someone you know is looking for “how to” videos for each vendor, DNACentral offers “Now What” courses for Ancestry, MyHeritage, 23andMe, Family Tree DNA and Living DNA in addition to topic specific sessions like the X chromosome, for example.

Social Media

2018 has seen a huge jump in social media usage which is both bad and good. The good news is that many new people are engaged. The bad news is that people often given faulty advice and for new people, it’s very difficult (nigh on impossible) to tell who is credible and who isn’t. I created a Help page for just this reason.

You can help with this issue by recommending subscribing to these three blogs, not just reading an article, to newbies or people seeking answers.

Always feel free to post links to my articles on any social media platform. Share, retweet, whatever it takes to get the words out!

The general genetic genealogy social media group I would recommend if I were to select only one would be Genetic Genealogy Tips and Techniques. It’s quite large but well-managed and remains positive.

I’m a member of many additional groups, several of which are vendor or interest specific.

Genetic Snakeoil

Now the bad news. Everyone had noticed the popularity of DNA testing – including shady characters.

Be careful, very VERY careful who you purchase products from and where you upload your DNA data.

If something is free, and you’re not within a well-known community, then YOU ARE THE PRODUCT. If it sounds too good to be true, it probably is. If it sounds shady or questionable, it’s probably that and more, or less.

If reputable people and vendors tell you that no, they really can’t determine your Native American tribe, for example, no other vendor can either. Just yesterday, a cousin sent me a link to a “tribe” in Canada that will, “for $50, we find one of your aboriginal ancestors and the nation stamps it.” On their list of aboriginal people we find one of my ancestors who, based on mitochondrial DNA tests, is clearly NOT aboriginal. Snake oil comes in lots of flavors with snake oil salesmen looking to prey on other people’s desires.

When considering DNA testing or transfers, make sure you fully understand the terms and conditions, where your DNA is going, who is doing what with it, and your recourse. Yes, read every single word of those terms and conditions. For more about legalities, check out Judy Russell’s blog.

Recommended Vendors

All those DNA tests look yummy-good, but in terms of vendors, I heartily recommend staying within the known credible vendors, as follows (in alphabetical order).

For genetic genealogy for ethnicity AND matching:

  • 23andMe
  • Ancestry
  • Family Tree DNA
  • GedMatch (not a vendor because they don’t test DNA, but a reputable third party)
  • MyHeritage

You can read about Which DNA Test is Best here although I need to update this article to reflect the 2018 additions by MyHeritage.

Understand that both 23andMe and Ancestry will sell your DNA if you consent and if you consent, you will not know who is using your DNA, where, or for what purposes. Neither Family Tree DNA, GedMatch, MyHeritage, Genographic Project, Insitome, Promethease nor LivingDNA sell your DNA.

The next group of vendors offers ethnicity without matching:

  • Genographic Project by National Geographic Society
  • Insitome
  • LivingDNA (currently working on matching, but not released yet)

Health (as a consumer, meaning you receive the results)

Medical (as a contributor, meaning you are contributing your DNA for research)

  • 23andMe
  • Ancestry
  • DNA.Land (not a testing vendor, doesn’t test DNA)

There are a few other niche vendors known for specific things within the genetic genealogy community, many of whom are mentioned in this article, but other than known vendors, buyer beware. If you don’t see them listed or discussed on my blog, there’s probably a reason.

What’s Coming in 2019

Just like we couldn’t have foreseen much of what happened in 2018, we don’t have access to a 2019 crystal ball, but it looks like 2019 is taking off like a rocket. We do know about a few things to look for:

  • MyHeritage is waiting to see if envelope and stamp DNA extractions are successful so that they can be added to their database.
  • www.totheletterDNA.com is extracting (attempting to) and processing DNA from stamps and envelopes for several people in the community. Hopefully they will be successful.
  • LivingDNA has been working on matching since before I met with their representative in October of 2017 in Dublin. They are now in Beta testing for a few individuals, but they have also just changed their DNA processing chip – so how that will affect things and how soon they will have matching ready to roll out the door is unknown.
  • Ancestry did a 2018 ethnicity update, integrating ethnicity more tightly with Genetic Communities, offered genetic traits and made some minor improvements this year, along with adding one questionable feature – showing your matches the location where you live as recorded in your profile. (23andMe subsequently added the same feature.) Ancestry recently said that they are promising exciting new tools for 2019, but somehow I doubt that the chromosome browser that’s been on my Christmas list for years will be forthcoming. Fingers crossed for something new and really useful. In the mean time, we can download our DNA results and upload to MyHeritage, Family Tree DNA and GedMatch for segment matching, as well as utilize Ancestry’s internal matching tools. DNA+tree matching, those green leaf shared ancestor hints, is still their strongest feature.
  • The Family Tree DNA Conference for Project Administrators will be held March 22-24 in Houston this year, and I’m hopeful that they will have new tools and announcements at that event. I’m looking forward to seeing many old friends in Houston in March.

Here’s what I know for sure about 2019 – it’s going to be an amazing year. We as a community and also as individual genealogists will be making incredible discoveries and moving the ball forward. I can hardly wait to see what quandaries I’ve solved a year from now.

What mysteries do you want to unravel?

I’d like to offer a big thank you to everyone who made 2018 wonderful and a big toast to finding lots of new ancestors and breaking down those brick walls in 2019.

Happy New Year!!!

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Disclosure

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

Thank you so much.

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The Journey of Man – Redux 15 Years On By Spencer Wells

I can’t believe that is has been 15 years since Spencer Wells wrote The Journey of Man – but it has.

For those who aren’t familiar, this groundbreaking book and documentary were the first of their kind, serving as incredible inspiration as well as a boon for DNA testing.

If you haven’t seen the documentary, and even if you have, I’d strongly recommend watching on YouTube, here.  The YouTube version is half an hour longer than the National Geographic documentary because about one third of the original PBS version, now available on YouTube, got left on the cutting room floor when the Nat Geo documentary was produced.

I watched the original documentary several years ago and I enjoyed watching this version every bit as much.

For an upcoming Insitome podcast later in January, Spencer, along with Razib Khan, is going to revisit The Journey of Man.  So very much has been learned in the past 15 years, even though it does seem only like the blink of an eye.

Questions for Spencer?

After watching the original Journey of Man: A Genetic Odyssey video, do you have questions for Spencer?

If so, you’re in luck, because Spencer is asking for your input.

From Spencer:

For this Journey of Man Redux episode, we’d love to get your thoughts on what we should include – questions left unanswered in the film/book, peoples or places we should look at in greater detail, or simply your favorite scenes.

Spencer will be following along!

This is an extremely rare opportunity to have your questions addressed by the founder of the Genographic Project.  I guarantee you, I have a list of questions!

A New Neanderthal

The Insitome podcasts are available at the iTunes store, here. Depending on your computer, you may only need to click on the blue “Podcast website” link on the bottom left.

If that doesn’t work, you’ll need to install iTunes on your system.  Click on “View in iTunes,” following the prompts to install iTunes on your PC.  Then, after iTunes is installed, click on the “Podcast website” link.

As luck would have it, today, Spencer is introducing the podcast, “Neander-Me, Part 1” focused on “what it means to be 2% Neanderthal that includes an interview with John Hawks via Skype from the Rising Star excavation in South Africa last fall.”

Part 2 of this series is scheduled to follow next week.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

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Genealogy Research

What is a Population Bottleneck?

water being emptied from a blue glass bottleGenetic genealogists often hear the term population bottleneck referenced in various academic papers – but just what is that?  And why do we care?

A population bottleneck occurs when there is a dramatic reduction in the population of a particular group of people.  Think about the eruption of a volcano – Mt. Toba for example.

Human history is full of population reducing examples, some we know about, like the plague, but most we don’t.  And obviously, if the bottleneck was so severe that no one survived – then there are no descendants of those people today – and that’s an extinction event, not a bottleneck.  The only way we would ever know those people existed is if we found their remains and sequenced them today – like the Neanderthal and Denisovan skeletons.

As a point of clarity – the Neanderthal and Denisovan did survive – not as pure Neanderthals or Denisovans – but admixed into the homo sapiens population – and they are indeed, us.  If you have either European or Asian ancestry, then you have Neanderthal and Denisovan ancestry too.

How could that be – all of Europe and Asia descended from these Archaic people?  Probably the after-effects of a population bottleneck where a small group of people went on to become a large group of people.

Let’s look at an example.

The best example I can think of is the migration of the Asian people into the Americas.  These first people would populate all of North and South America and would become the indigenous people of these continents – by whatever name is applied today.  First People, Native Americans, American Indians – they are all of the same stock and the result of at least one population bottleneck.

That first bottleneck occurred when some people crossed over the land bridge, Beringia, between Asia and what is now Alaska.

beringia map

Erika Tamm et al – Tamm E, Kivisild T, Reidla M, Metspalu M, Smith DG, et al. (2007) Beringian Standstill and Spread of Native American Founders. PLoS ONE 2(9): e829. doi:10.1371/journal.pone.0000829. Also available from PubMed Central.

The bottleneck event that occurred there was that there weren’t very many people. It was probably a small group.  Possibly very small.  What do we know about them?

There were obviously males and females.

Assuming for purposes of discussion that all of the people who founded the Native American population came at once, or in what is referred to as one wave, we know that there were at least two men and 5 women.

How do we know that?  Because today we have Y haplogroups Q and C in the Native population and mitochondrial haplogroups A, B, C, D and X in that population as well.  Since the Y chromosome is passed from father to son unadmixed with any DNA from the mother, the haplogroups we see today are directly descended from those original founders.  Mitochondrial DNA is passed from the mother to all of her children, but only the females pass it on, so we get a direct pipeline view back to the founding mothers.

There may have been more individuals and haplogroups that arrived.  Some may have died out in Beringia or afterwards in subsequent bottleneck events.

Let’s say the group stayed together for a while.  Then, it got too big to support itself comfortably on the resources available.  In other words, the population began depleting the available resources.  So, the group separated by a few miles so that they could draw off of a different landscape where food was more abundant.

One group went 20 miles east and one group went 20 miles south.  It wasn’t meant to be permanent, but eventually, the split became permanent as that scenario repeated itself over time.

Eventually, one of the groups moved further south and small groups broke off from time to time and moved east across what would be the US and Canada.  Part of the group continued south along the Pacific and would populate Mexico, Central and South America.

Let’s say that one of those small bands of people that headed east wound up living in Montana, 12,500 years ago.  A child died, and they buried that child.

The group they separated from continued south and their descendants are found throughout Mexico, Central and South American today.

That child’s name is Anzick.  His skeleton was found in 1968 and his full genome was sequenced before he was reburied in 2013.  When his DNA was sequenced, we discovered, much to our amazement, that Anzick indeed matched people, primarily people from south of the US, at a level that could be interpreted to be contemporary.  How could that possibly be?

Think about a bottleneck in this fashion.

There are 4 people, 2 couples.  Each person’s DNA is represented by a color.  The two males are blue and green and the 2 females are pink and yellow, like on the left side of the pedigree chart shown below.

perez autosomal

In the first generation, they pass their DNA to their children and the children are blue/yellow and green/pink.  In the second generation, the children intermarry with the other couple’s children – because there are no choices.  All of the grandchildren of the original couple have DNA that is blue, yellow, green and pink.  The children and grandchildren don’t all carry the same segments of blue, yellow, green and pink – but all of them carry some part of the original 4 founders.  There is no orange or turquoise or red DNA to be found, so forever, until new people enter the landscape, they will pass the same segments of blue, green, yellow and pink DNA to their descendants.  In an isolated environment, they might not meet new humans for thousands of years – lets’ say 10,000 years.

So, if the Anzick child had blue, yellow, green and pink DNA and the contemporary Native people living in South America have blue, yellow, green and pink Native DNA from those same four founding ancestors, it stands to reason that they are going to match – because it’s the exact same DNA that has been passed around and around for thousands of years.

This matching is the effect of a population bottleneck.

We can think of other bottleneck events too.  For example, the Acadians were a bottleneck event.  A few shiploads of French Catholic people on an Island in the early 1600s – they didn’t have a lot of choice in terms of spouses. The genealogy saying is that if you’re related to one Acadian, you’re related to all Acadians, and it’s pretty much true.  Same with the Pilgrims and the individuals who came over on the Mayflower.

Some bottlenecks are religiously induced – Amish, Mennonite and Jewish, for example.  These people marry only within their religion.  Today, that’s called endogamy – but it’s a form of a bottleneck event.

We see the results of bottleneck events today in three ways in our DNA.  In both Y and mitochondrial DNA, we often see specific haplogroups or subgroups associated with specific populations – like Q and C in Native American Y DNA and subsets of A, B, C, D, X and possibly M in Native American mitochondrial DNA.

We also see the effects of bottleneck events in autosomal DNA.  We talk about segments that are IBD, identical by descent, and IBS, identical by state.  Identical by descent typically means we can attribute the DNA segment to a specific ancestor via triangulation.  Often, everything we can’t identify gets tossed into the IBS box, but it really shouldn’t.

When you hear people talk about IBS, or autosomal DNA segments that are identical by state, there are really two possibilities.  One is that the DNA is identical by chance.

The other option is that the DNA is identical by population.  This means that the DNA does indeed match because it came from a common ancestor – but that ancestor is beyond the genealogical timeframe.  That doesn’t mean the information isn’t useful.  Indeed, I think it’s very useful.  I want to know if a segment of my DNA is Native, even if I share that segment with lots of other Native people.  In fact, that’s exactly HOW we determine a specific autosomal segment is affiliated with Native or any other population group of people.  Certain segments are found in a higher percentage across the entire population group.  So, to throw these out in personal genetic genealogy by phasing which removes population based matches is a case of throwing the baby out with the bathwater.  I have several matches on my spreadsheet where I have the notation “Mennonite” or “Acadian” for example, because while I can’t sort out which specific ancestor the DNA came from, it assuredly came from the Acadian population based on the matches – and that’s very useful information.

Population bottlenecks may seem like a scientific term referencing something that happened long ago, but the effects of bottlenecks can be found in every one of us, beginning with Neanderthal and Denisovan DNA and probably including ancestors who survived, or willingly embraced beliefs which in essence created historical bottlenecks.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

2014 Top Genetic Genealogy Happenings – A Baker’s Dozen +1

It’s that time again, to look over the year that has just passed and take stock of what has happened in the genetic genealogy world.  I wrote a review in both 2012 and 2013 as well.  Looking back, these momentous happenings seem quite “old hat” now.  For example, both www.GedMatch.com and www.DNAGedcom.com, once new, have become indispensable tools that we take for granted.  Please keep in mind that both of these tools (as well as others in the Tools section, below) depend on contributions, although GedMatch now has a tier 1 subscription offering for $10 per month as well.

So what was the big news in 2014?

Beyond the Tipping Point

Genetic genealogy has gone over the tipping point.  Genetic genealogy is now, unquestionably, mainstream and lots of people are taking part.  From the best I can figure, there are now approaching or have surpassed three million tests or test records, although certainly some of those are duplicates.

  • 500,000+ at 23andMe
  • 700,000+ at Ancestry
  • 700,000+ at Genographic

The organizations above represent “one-test” companies.  Family Tree DNA provides various kinds of genetic genealogy tests to the community and they have over 380,000 individuals with more than 700,000 test records.

In addition to the above mentioned mainstream firms, there are other companies that provide niche testing, often in addition to Family Tree DNA Y results.

In addition, there is what I would refer to as a secondary market for testing as well which certainly attracts people who are not necessarily genetic genealogists but who happen across their corporate information and decide the test looks interesting.  There is no way of knowing how many of those tests exist.

Additionally, there is still the Sorenson data base with Y and mtDNA tests which reportedly exceeded their 100,000 goal.

Spencer Wells spoke about the “viral spread threshold” in his talk in Houston at the International Genetic Genealogy Conference in October and terms 2013 as the year of infection.  I would certainly agree.

spencer near term

Autosomal Now the New Normal

Another change in the landscape is that now, autosomal DNA has become the “normal” test.  The big attraction to autosomal testing is that anyone can play and you get lots of matches.  Earlier in the year, one of my cousins was very disappointed in her brother’s Y DNA test because he only had a few matches, and couldn’t understand why anyone would test the Y instead of autosomal where you get lots and lots of matches.  Of course, she didn’t understand the difference in the tests or the goals of the tests – but I think as more and more people enter the playground – percentagewise – fewer and fewer do understand the differences.

Case in point is that someone contacted me about DNA and genealogy.  I asked them which tests they had taken and where and their answer was “the regular one.”  With a little more probing, I discovered that they took Ancestry’s autosomal test and had no clue there were any other types of tests available, what they could tell him about his ancestors or genetic history or that there were other vendors and pools to swim in as well.

A few years ago, we not only had to explain about DNA tests, but why the Y and mtDNA is important.  Today, we’ve come full circle in a sense – because now we don’t have to explain about DNA testing for genealogy in general but we still have to explain about those “unknown” tests, the Y and mtDNA.  One person recently asked me, “oh, are those new?”

Ancient DNA

This year has seen many ancient DNA specimens analyzed and sequenced at the full genomic level.

The year began with a paper titled, “When Populations Collide” which revealed that contemporary Europeans carry between 1-4% of Neanderthal DNA most often associated with hair and skin color, or keratin.  Africans, on the other hand, carry none or very little Neanderthal DNA.

http://dna-explained.com/2014/01/30/neanderthal-genome-further-defined-in-contemporary-eurasians/

A month later, a monumental paper was published that detailed the results of sequencing a 12,500 Clovis child, subsequently named Anzick or referred to as the Anzick Clovis child, in Montana.  That child is closely related to Native American people of today.

http://dna-explained.com/2014/02/13/clovis-people-are-native-americans-and-from-asia-not-europe/

In June, another paper emerged where the authors had analyzed 8000 year old bones from the Fertile Crescent that shed light on the Neolithic area before the expansion from the Fertile Crescent into Europe.  These would be the farmers that assimilated with or replaced the hunter-gatherers already living in Europe.

http://dna-explained.com/2014/06/09/dna-analysis-of-8000-year-old-bones-allows-peek-into-the-neolithic/

Svante Paabo is the scientist who first sequenced the Neanderthal genome.  Here is a neanderthal mangreat interview and speech.  This man is so interesting.  If you have not read his book, “Neanderthal Man, In Search of Lost Genomes,” I strongly recommend it.

http://dna-explained.com/2014/07/22/finding-your-inner-neanderthal-with-evolutionary-geneticist-svante-paabo/

In the fall, yet another paper was released that contained extremely interesting information about the peopling and migration of humans across Europe and Asia.  This was just before Michael Hammer’s presentation at the Family Tree DNA conference, so I covered the paper along with Michael’s information about European ancestral populations in one article.  The take away messages from this are two-fold.  First, there was a previously undefined “ghost population” called Ancient North Eurasian (ANE) that is found in the northern portion of Asia that contributed to both Asian populations, including those that would become the Native Americans and European populations as well.  Secondarily, the people we thought were in Europe early may not have been, based on the ancient DNA remains we have to date.  Of course, that may change when more ancient DNA is fully sequenced which seems to be happening at an ever-increasing rate.

http://dna-explained.com/2014/10/21/peopling-of-europe-2014-identifying-the-ghost-population/

Lazaridis tree

Ancient DNA Available for Citizen Scientists

If I were to give a Citizen Scientist of the Year award, this year’s award would go unquestionably to Felix Chandrakumar for his work with the ancient genome files and making them accessible to the genetic genealogy world.  Felix obtained the full genome files from the scientists involved in full genome analysis of ancient remains, reduced the files to the SNPs utilized by the autosomal testing companies in the genetic genealogy community, and has made them available at GedMatch.

http://dna-explained.com/2014/09/22/utilizing-ancient-dna-at-gedmatch/

If this topic is of interest to you, I encourage you to visit his blog and read his many posts over the past several months.

https://plus.google.com/+FelixChandrakumar/posts

The availability of these ancient results set off a sea of comparisons.  Many people with Native heritage matched Anzick’s file at some level, and many who are heavily Native American, particularly from Central and South America where there is less admixture match Anzick at what would statistically be considered within a genealogical timeframe.  Clearly, this isn’t possible, but it does speak to how endogamous populations affect DNA, even across thousands of years.

http://dna-explained.com/2014/09/23/analyzing-the-native-american-clovis-anzick-ancient-results/

Because Anzick is matching so heavily with the Mexican, Central and South American populations, it gives us the opportunity to extract mitochondrial DNA haplogroups from the matches that either are or may be Native, if they have not been recorded before.

http://dna-explained.com/2014/09/23/analyzing-the-native-american-clovis-anzick-ancient-results/

Needless to say, the matches of these ancient kits with contemporary people has left many people questioning how to interpret the results.  The answer is that we don’t really know yet, but there is a lot of study as well as speculation occurring.  In the citizen science community, this is how forward progress is made…eventually.

http://dna-explained.com/2014/09/25/ancient-dna-matches-what-do-they-mean/

http://dna-explained.com/2014/09/30/ancient-dna-matching-a-cautionary-tale/

More ancient DNA samples for comparison:

http://dna-explained.com/2014/10/04/more-ancient-dna-samples-for-comparison/

A Siberian sample that also matches the Malta Child whose remains were analyzed in late 2013.

http://dna-explained.com/2014/11/12/kostenki14-a-new-ancient-siberian-dna-sample/

Felix has prepared a list of kits that he has processed, along with their GedMatch numbers and other relevant information, like gender, haplogroup(s), age and location of sample.

http://www.y-str.org/p/ancient-dna.html

Furthermore, in a collaborative effort with Family Tree DNA, Felix formed an Ancient DNA project and uploaded the ancient autosomal files.  This is the first time that consumers can match with Ancient kits within the vendor’s data bases.

https://www.familytreedna.com/public/Ancient_DNA

Recently, GedMatch added a composite Archaic DNA Match comparison tool where your kit number is compared against all of the ancient DNA kits available.  The output is a heat map showing which samples you match most closely.

gedmatch ancient heat map

Indeed, it has been a banner year for ancient DNA and making additional discoveries about DNA and our ancestors.  Thank you Felix.

Haplogroup Definition

That SNP tsunami that we discussed last year…well, it made landfall this year and it has been storming all year long…in a good way.  At least, ultimately, it will be a good thing.  If you asked the haplogroup administrators today about that, they would probably be too tired to answer – as they’ve been quite overwhelmed with results.

The Big Y testing has been fantastically successful.  This is not from a Family Tree DNA perspective, but from a genetic genealogy perspective.  Branches have been being added to and sawed off of the haplotree on a daily basis.  This forced the renaming of the haplogroups from the old traditional R1b1a2 to R-M269 in 2012.  While there was some whimpering then, it would be nothing like the outright wailing now that would be occurring as haplogroup named reached 20 or so digits.

Alice Fairhurst discussed the SNP tsunami at the DNA Conference in Houston in October and I’m sure that the pace hasn’t slowed any between now and then.  According to Alice, in early 2014, there were 4115 individual SNPs on the ISOGG Tree, and as of the conference, there were 14,238 SNPs, with the 2014 addition total at that time standing at 10,213.  That is over 1000 per month or about 35 per day, every day.

Yes, indeed, that is the definition of a tsunami.  Every one of those additions requires one of a number of volunteers, generally haplogroup project administrators to evaluate the various Big Y results, the SNPs and novel variants included, where they need to be inserted in the tree and if branches need to be rearranged.  In some cases, naming request for previously unknown SNPs also need to be submitted.  This is all done behind the scenes and it’s not trivial.

The project I’m closest to is the R1b L-21 project because my Estes males fall into that group.  We’ve tested several, and I’ll be writing an article as soon as the final test is back.

The tree has grown unbelievably in this past year just within the L21 group.  This project includes over 700 individuals who have taken the Big Y test and shared their results which has defined about 440 branches of the L21 tree.  Currently there are almost 800 kits available if you count the ones on order and the 20 or so from another vendor.

Here is the L21 tree in January of 2014

L21 Jan 2014 crop

Compare this with today’s tree, below.

L21 dec 2014

Michael Walsh, Richard Stevens, David Stedman need to be commended for their incredible work in the R-L21 project.  Other administrators are doing equivalent work in other haplogroup projects as well.  I big thank you to everyone.  We’d be lost without you!

One of the results of this onslaught of information is that there have been fewer and fewer academic papers about haplogroups in the past few years.  In essence, by the time a paper can make it through the peer review cycle and into publication, the data in the paper is often already outdated relative to the Y chromosome.  Recently a new paper was released about haplogroup C3*.  While the data is quite valid, the authors didn’t utilize the new SNP naming nomenclature.  Before writing about the topic, I had to translate into SNPese.  Fortunately, C3* has been relatively stable.

http://dna-explained.com/2014/12/23/haplogroup-c3-previously-believed-east-asian-haplogroup-is-proven-native-american/

10th Annual International Conference on Genetic Genealogy

The Family Tree DNA International Conference on Genetic Genealogy for project administrators is always wonderful, but this year was special because it was the 10th annual.  And yes, it was my 10th year attending as well.  In all these years, I had never had a photo with both Max and Bennett.  Everyone is always so busy at the conferences.  Getting any 3 people, especially those two, in the same place at the same time takes something just short of a miracle.

roberta, max and bennett

Ten years ago, it was the first genetic genealogy conference ever held, and was the only place to obtain genetic genealogy education outside of the rootsweb genealogy DNA list, which is still in existence today.  Family Tree DNA always has a nice blend of sessions.  I always particularly appreciate the scientific sessions because those topics generally aren’t covered elsewhere.

http://dna-explained.com/2014/10/11/tenth-annual-family-tree-dna-conference-opening-reception/

http://dna-explained.com/2014/10/12/tenth-annual-family-tree-dna-conference-day-2/

http://dna-explained.com/2014/10/13/tenth-annual-family-tree-dna-conference-day-3/

http://dna-explained.com/2014/10/15/tenth-annual-family-tree-dna-conference-wrapup/

Jennifer Zinck wrote great recaps of each session and the ISOGG meeting.

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy/

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy-isogg-meeting/

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy-sunday/

I thank Family Tree DNA for sponsoring all 10 conferences and continuing the tradition.  It’s really an amazing feat when you consider that 15 years ago, this industry didn’t exist at all and wouldn’t exist today if not for Max and Bennett.

Education

Two educational venues offered classes for genetic genealogists and have made their presentations available either for free or very reasonably.  One of the problems with genetic genealogy is that the field is so fast moving that last year’s session, unless it’s the very basics, is probably out of date today.  That’s the good news and the bad news.

http://dna-explained.com/2014/11/12/genetic-genealogy-ireland-2014-presentations 

http://dna-explained.com/2014/09/26/educational-videos-from-international-genetic-genealogy-conference-now-available/

In addition, three books have been released in 2014.emily book

In January, Emily Aulicino released Genetic Genealogy, The Basics and Beyond.

richard hill book

In October, Richard Hill released “Guide to DNA Testing: How to Identify Ancestors, Confirm Relationships and Measure Ethnicity through DNA Testing.”

david dowell book

Most recently, David Dowell’s new book, NextGen Genealogy: The DNA Connection was released right after Thanksgiving.

 

Ancestor Reconstruction – Raising the Dead

This seems to be the year that genetic genealogists are beginning to reconstruct their ancestors (on paper, not in the flesh) based on the DNA that the ancestors passed on to various descendants.  Those segments are “gathered up” and reassembled in a virtual ancestor.

I utilized Kitty Cooper’s tool to do just that.

http://dna-explained.com/2014/10/03/ancestor-reconstruction/

henry bolton probablyI know it doesn’t look like much yet but this is what I’ve been able to gather of Henry Bolton, my great-great-great-grandfather.

Kitty did it herself too.

http://blog.kittycooper.com/2014/08/mapping-an-ancestral-couple-a-backwards-use-of-my-segment-mapper/

http://blog.kittycooper.com/2014/09/segment-mapper-tool-improvements-another-wold-dna-map/

Ancestry.com wrote a paper about the fact that they have figured out how to do this as well in a research environment.

http://corporate.ancestry.com/press/press-releases/2014/12/ancestrydna-reconstructs-partial-genome-of-person-living-200-years-ago/

http://www.thegeneticgenealogist.com/2014/12/16/ancestrydna-recreates-portions-genome-david-speegle-two-wives/

GedMatch has created a tool called, appropriately, Lazarus that does the same thing, gathers up the DNA of your ancestor from their descendants and reassembles it into a DNA kit.

Blaine Bettinger has been working with and writing about his experiences with Lazarus.

http://www.thegeneticgenealogist.com/2014/10/20/finally-gedmatch-announces-monetization-strategy-way-raise-dead/

http://www.thegeneticgenealogist.com/2014/12/09/recreating-grandmothers-genome-part-1/

http://www.thegeneticgenealogist.com/2014/12/14/recreating-grandmothers-genome-part-2/

Tools

Speaking of tools, we have some new tools that have been introduced this year as well.

Genome Mate is a desktop tool used to organize data collected by researching DNA comparsions and aids in identifying common ancestors.  I have not used this tool, but there are others who are quite satisfied.  It does require Microsoft Silverlight be installed on your desktop.

The Autosomal DNA Segment Analyzer is available through www.dnagedcom.com and is a tool that I have used and found very helpful.  It assists you by visually grouping your matches, by chromosome, and who you match in common with.

adsa cluster 1

Charting Companion from Progeny Software, another tool I use, allows you to colorize and print or create pdf files that includes X chromosome groupings.  This greatly facilitates seeing how the X is passed through your ancestors to you and your parents.

x fan

WikiTree is a free resource for genealogists to be able to sort through relationships involving pedigree charts.  In November, they announced Relationship Finder.

Probably the best example I can show of how WikiTree has utilized DNA is using the results of King Richard III.

wiki richard

By clicking on the DNA icon, you see the following:

wiki richard 2

And then Richard’s Y, mitochondrial and X chromosome paths.

wiki richard 3

Since Richard had no descendants, to see how descendants work, click on his mother, Cecily of York’s DNA descendants and you’re shown up to 10 generations.

wiki richard 4

While this isn’t terribly useful for Cecily of York who lived and died in the 1400s, it would be incredibly useful for finding mitochondrial descendants of my ancestor born in 1802 in Virginia.  I’d love to prove she is the daughter of a specific set of parents by comparing her DNA with that of a proven daughter of those parents!  Maybe I’ll see if I can find her parents at WikiTree.

Kitty Cooper’s blog talks about additional tools.  I have used Kitty’s Chromosome mapping tools as discussed in ancestor reconstruction.

Felix Chandrakumar has created a number of fun tools as well.  Take a look.  I have not used most of these tools, but there are several I’ll be playing with shortly.

Exits and Entrances

With very little fanfare, deCODEme discontinued their consumer testing and reminded people to download their date before year end.

http://dna-explained.com/2014/09/30/decodeme-consumer-tests-discontinued/

I find this unfortunate because at one time, deCODEme seemed like a company full of promise for genetic genealogy.  They failed to take the rope and run.

On a sad note, Lucas Martin who founded DNA Tribes unexpectedly passed away in the fall.  DNA Tribes has been a long-time player in the ethnicity field of genetic genealogy.  I have often wondered if Lucas Martin was a pseudonym, as very little information about Lucas was available, even from Lucas himself.  Neither did I find an obituary.  Regardless, it’s sad to see someone with whom the community has worked for years pass away.  The website says that they expect to resume offering services in January 2015. I would be cautious about ordering until the structure of the new company is understood.

http://www.dnatribes.com/

In the last month, a new offering has become available that may be trying to piggyback on the name and feel of DNA Tribes, but I’m very hesitant to provide a link until it can be determined if this is legitimate or bogus.  If it’s legitimate, I’ll be writing about it in the future.

However, the big news exit was Ancestry’s exit from the Y and mtDNA testing arena.  We suspected this would happen when they stopped selling kits, but we NEVER expected that they would destroy the existing data bases, especially since they maintain the Sorenson data base as part of their agreement when they obtained the Sorenson data.

http://dna-explained.com/2014/10/02/ancestry-destroys-irreplaceable-dna-database/

The community is still hopeful that Ancestry may reverse that decision.

Ancestry – The Chromosome Browser War and DNA Circles

There has been an ongoing battle between Ancestry and the more seasoned or “hard-core” genetic genealogists for some time – actually for a long time.

The current and most long-standing issue is the lack of a chromosome browser, or any similar tools, that will allow genealogists to actually compare and confirm that their DNA match is genuine.  Ancestry maintains that we don’t need it, wouldn’t know how to use it, and that they have privacy concerns.

Other than their sessions and presentations, they had remained very quiet about this and not addressed it to the community as a whole, simply saying that they were building something better, a better mousetrap.

In the fall, Ancestry invited a small group of bloggers and educators to visit with them in an all-day meeting, which came to be called DNA Day.

http://dna-explained.com/2014/10/08/dna-day-with-ancestry/

In retrospect, I think that Ancestry perceived that they were going to have a huge public relations issue on their hands when they introduced their new feature called DNA Circles and in the process, people would lose approximately 80% of their current matches.  I think they were hopeful that if they could educate, or convince us, of the utility of their new phasing techniques and resulting DNA Circles feature that it would ease the pain of people’s loss in matches.

I am grateful that they reached out to the community.  Some very useful dialogue did occur between all participants.  However, to date, nothing more has happened nor have we received any additional updates after the release of Circles.

Time will tell.

http://dna-explained.com/2014/11/18/in-anticipation-of-ancestrys-better-mousetrap/

http://dna-explained.com/2014/11/19/ancestrys-better-mousetrap-dna-circles/

DNA Circles 12-29-2014

DNA Circles, while interesting and somewhat useful, is certainly NOT a replacement for a chromosome browser, nor is it a better mousetrap.

http://dna-explained.com/2014/11/30/chromosome-browser-war/

In fact, the first thing you have to do when you find a DNA Circle that you have not verified utilizing raw data and/or chromosome browser tools from either 23andMe, Family Tree DNA or Gedmatch, is to talk your matches into transferring their DNA to Family Tree DNA or download to Gedmatch, or both.

http://dna-explained.com/2014/11/27/sarah-hickerson-c1752-lost-ancestor-found-52-ancestors-48/

I might add that the great irony of finding the Hickerson DNA Circle that led me to confirm that ancestry utilizing both Family Tree DNA and GedMatch is that today, when I checked at Ancestry, the Hickerson DNA Circle is no longer listed.  So, I guess I’ve been somehow pruned from the circle.  I wonder if that is the same as being voted off of the island.  So, word to the wise…check your circles often…they change and not always in the upwards direction.

The Seamy Side – Lies, Snake Oil Salesmen and Bullys

Unfortunately a seamy side, an underbelly that’s rather ugly has developed in and around the genetic genealogy industry.  I guess this was to be expected with the rapid acceptance and increasing popularity of DNA testing, but it’s still very unfortunate.

Some of this I expected, but I didn’t expect it to be so…well…blatant.

I don’t watch late night TV, but I’m sure there are now DNA diets and DNA dating and just about anything else that could be sold with the allure of DNA attached to the title.

I googled to see if this was true, and it is, although I’m not about to click on any of those links.

google dna dating

google dna diet

Unfortunately, within the ever-growing genetic genealogy community a rather large rift has developed over the past couple of years.  Obviously everyone can’t get along, but this goes beyond that.  When someone disagrees, a group actively “stalks” the person, trying to cost them their employment, saying hate filled and untrue things and even going so far as to create a Facebook page titled “Against<personname>.”  That page has now been removed, but the fact that a group in the community found it acceptable to create something like that, and their friends joined, is remarkable, to say the least.  That was accompanied by death threats.

Bullying behavior like this does not make others feel particularly safe in expressing their opinions either and is not conducive to free and open discussion. As one of the law enforcement officers said, relative to the events, “This is not about genealogy.  I don’t know what it is about, yet, probably money, but it’s not about genealogy.”

Another phenomenon is that DNA is now a hot topic and is obviously “selling.”  Just this week, this report was published, and it is, as best we can tell, entirely untrue.

http://worldnewsdailyreport.com/usa-archaeologists-discover-remains-of-first-british-settlers-in-north-america/

There were several tip offs, like the city (Lanford) and county (Laurens County) is not in the state where it is attributed (it’s in SC not NC), and the name of the institution is incorrect (Johns Hopkins, not John Hopkins).  Additionally, if you google the name of the magazine, you’ll see that they specialize in tabloid “faux reporting.”  It also reads a lot like the King Richard genuine press release.

http://urbanlegends.about.com/od/Fake-News/tp/A-Guide-to-Fake-News-Websites.01.htm

Earlier this year, there was a bogus institutional site created as well.

On one of the DNA forums that I frequent, people often post links to articles they find that are relevant to DNA.  There was an interesting article, which has now been removed, correlating DNA results with latitude and altitude.  I thought to myself, I’ve never heard of that…how interesting.   Here’s part of what the article said:

Researchers at Aberdeen College’s Havering Centre for Genetic Research have discovered an important connection between our DNA and where our ancestors used to live.

Tiny sequence variations in the human genome sometimes called Single Nucleotide Polymorphisms (SNPs) occur with varying frequency in our DNA.  These have been studied for decades to understand the major migrations of large human populations.  Now Aberdeen College’s Dr. Miko Laerton and a team of scientists have developed pioneering research that shows that these differences in our DNA also reveal a detailed map of where our own ancestors lived going back thousands of years.

Dr. Laerton explains:  “Certain DNA sequence variations have always been important signposts in our understanding of human evolution because their ages can be estimated.  We’ve known for years that they occur most frequently in certain regions [of DNA], and that some alleles are more common to certain geographic or ethnic groups, but we have never fully understood the underlying reasons.  What our team found is that the variations in an individual’s DNA correlate with the latitudes and altitudes where their ancestors were living at the time that those genetic variations occurred.  We’re still working towards a complete understanding, but the knowledge that sequence variations are connected to latitude and altitude is a huge breakthrough by itself because those are enough to pinpoint where our ancestors lived at critical moments in history.”

The story goes on, but at the bottom, the traditional link to the publication journal is found.

The full study by Dr. Laerton and her team was published in the September issue of the Journal of Genetic Science.

I thought to myself, that’s odd, I’ve never heard of any of these people or this journal, and then I clicked to find this.

Aberdeen College bogus site

About that time, Debbie Kennett, DNA watchdog of the UK, posted this:

April Fools Day appears to have arrived early! There is no such institution as Aberdeen College founded in 1394. The University of Aberdeen in Scotland was founded in 1495 and is divided into three colleges: http://www.abdn.ac.uk/about/colleges-schools-institutes/colleges-53.php

The picture on the masthead of the “Aberdeen College” website looks very much like a photo of Aberdeen University. This fake news item seems to be the only live page on the Aberdeen College website. If you click on any other links, including the link to the so-called “Journal of Genetic Science”, you get a message that the website is experienced “unusually high traffic”. There appears to be no such journal anyway.

We also realized that Dr. Laerton, reversed, is “not real.”

I still have no idea why someone would invest the time and effort into the fake website emulating the University of Aberdeen, but I’m absolutely positive that their motives were not beneficial to any of us.

What is the take-away of all of this?  Be aware, very aware, skeptical and vigilant.  Stick with the mainstream vendors unless you realize you’re experimenting.

King Richard

King Richard III

The much anticipated and long-awaited DNA results on the remains of King Richard III became available with a very unexpected twist.  While the science team feels that they have positively identified the remains as those of Richard, the Y DNA of Richard and another group of men supposed to have been descended from a common ancestor with Richard carry DNA that does not match.

http://dna-explained.com/2014/12/09/henry-iii-king-of-england-fox-in-the-henhouse-52-ancestors-49/

http://dna-explained.com/2014/12/05/mitochondrial-dna-mutation-rates-and-common-ancestors/

Debbie Kennett wrote a great summary article.

http://cruwys.blogspot.com/2014/12/richard-iii-and-use-of-dna-as-evidence.html

More Alike than Different

One of the life lessons that genetic genealogy has held for me is that we are more closely related that we ever knew, to more people than we ever expected, and we are far more alike than different.  A recent paper recently published by 23andMe scientists documents that people’s ethnicity reflect the historic events that took place in the part of the country where their ancestors lived, such as slavery, the Trail of Tears and immigration from various worldwide locations.

23andMe European African map

From the 23andMe blog:

The study leverages samples of unprecedented size and precise estimates of ancestry to reveal the rate of ancestry mixing among American populations, and where it has occurred geographically:

  • All three groups – African Americans, European Americans and Latinos – have ancestry from Africa, Europe and the Americas.
  • Approximately 3.5 percent of European Americans have 1 percent or more African ancestry. Many of these European Americans who describe themselves as “white” may be unaware of their African ancestry since the African ancestor may be 5-10 generations in the past.
  • European Americans with African ancestry are found at much higher frequencies in southern states than in other parts of the US.

The ancestry proportions point to the different regional impacts of slavery, immigration, migration and colonization within the United States:

  • The highest levels of African ancestry among self-reported African Americans are found in southern states, especially South Carolina and Georgia.
  • One in every 20 African Americans carries Native American ancestry.
  • More than 14 percent of African Americans from Oklahoma carry at least 2 percent Native American ancestry, likely reflecting the Trail of Tears migration following the Indian Removal Act of 1830.
  • Among self-reported Latinos in the US, those from states in the southwest, especially from states bordering Mexico, have the highest levels of Native American ancestry.

http://news.sciencemag.org/biology/2014/12/genetic-study-reveals-surprising-ancestry-many-americans?utm_campaign=email-news-weekly&utm_source=eloqua

23andMe provides a very nice summary of the graphics in the article at this link:

http://blog.23andme.com/wp-content/uploads/2014/10/Bryc_ASHG2014_textboxes.pdf

The academic article can be found here:

http://www.cell.com/ajhg/home

2015

So what does 2015 hold? I don’t know, but I can’t wait to find out. Hopefully, it holds more ancestors, whether discovered through plain old paper research, cousin DNA testing or virtually raised from the dead!

What would my wish list look like?

  • More ancient genomes sequenced, including ones from North and South America.
  • Ancestor reconstruction on a large scale.
  • The haplotree becoming fleshed out and stable.
  • Big Y sequencing combined with STR panels for enhanced genealogical research.
  • Improved ethnicity reporting.
  • Mitochondrial DNA search by ancestor for descendants who have tested.
  • More tools, always more tools….
  • More time to use the tools!

Here’s wishing you an ancestor filled 2015!

______________________________________________________________

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Kostenki14 – A New Ancient Siberian DNA Sample

k14 skeleton

This week, published in Science, we find another ancient DNA full genome sequence from Siberia in an article titled “Genomic structure in Europeans dating back at least 36,200 years” by Seguin-Orlando et al.. This sample, partially shown above, is quite old and closely related to the Mal’ta child, also found in Siberia from about 24,000 years ago. Interestingly enough, K14 carries more Neanderthal DNA than current Europeans. This skeleton was actually excavated in 1954, but was only recently genetically analyzed.

k14 mapFrom the paper, this map above shows the locations of recently analyzed ancient DNA samples.  Note that even though K14 and Mal’ta child are similar, they are not located in close geographic proximity.

k14 population clusterAlso from the paper, this chart of population clusters is quite interesting, because we can see which of these ancient samples share some heritage with today’s indigenous American populations, shown in grey. UPGH=Upper Paleolithic Hunter-Gatherer, MHG=Mesolithic Hunter Gatherer, which is later in time that Paleolithic, and NEOL=Neolithic indicating the farming population that arrived in Europe approximately 7,000-10,000 years ago from the Middle East

You can see that the Neolithic samples show no trace of ancestry with today’s Native people, but both pre-Neolithic Hunter-Gatherer cultures show some amount of shared ancestry with Native people. However, to date, MA1, the Malta child is the most closely related and carries the most DNA in common with today’s Native people.

Felix Chandrakumar is currently preparing the K14 genome for addition to the ancient DNA kits at GedMatch.  It will be interesting to see if this sample also matches currently living individuals.

Also from the K14 paper, you can see on the map below where K14 matches current worldwide and European populations, where the warmer colors, i.e. red, indicated a closer match.

K14 population matches

Of interest to genealogists and population geneticists, K14’s mitochondrial haplogroup is U2 and his Y haplogroup is C-M130, the same as LaBrana, a late Mesolithic hunter-gatherer found in northern Spain. Haplogroup C is, of course, one of the base haplogroups for the Native people of the Americas.

The K14 paper further fleshes out the new peopling of Europe diagram discussed in my Peopling of Europe article.

This map, from the Lazardis “Ancient human genomes suggest three ancestral populations for present-day Europeans” paper published in September 2014, shows the newly defined map including Ancient North Eurasian in this diagram.

Lazaridis tree

K14 adds to this diagram in the following manner, although the paths are flipped right to left.

K14 tree

Blue represent current populations, red are ancient remains and green are ancestral populations.

Dienekes wrote about this find as well, here.

Paper Abstract:

The origin of contemporary Europeans remains contentious. We obtain a genome sequence from Kostenki 14 in European Russia dating to 38,700 to 36,200 years ago, one of the oldest fossils of Anatomically Modern Humans from Europe. We find that K14 shares a close ancestry with the 24,000-year-old Mal’ta boy from central Siberia, European Mesolithic hunter-gatherers, some contemporary western Siberians, and many Europeans, but not eastern Asians. Additionally, the Kostenki 14 genome shows evidence of shared ancestry with a population basal to all Eurasians that also relates to later European Neolithic farmers. We find that Kostenki 14 contains more Neandertal DNA that is contained in longer tracts than present Europeans. Our findings reveal the timing of divergence of western Eurasians and East Asians to be more than 36,200 years ago and that European genomic structure today dates back to the Upper Paleolithic and derives from a meta-population that at times stretched from Europe to central Asia.

You can read the full paper at the two links below.

http://www.sciencemag.org/content/early/2014/11/05/science.aaa0114

http://www2.zoo.cam.ac.uk/manica/ms/2014_Seguin_Orlando_et_al_Science.pdf

It’s been a great year for ancient DNA analysis and learning about our ancestral human populations.

However, I have one observation I just have to make about this particular find.

What amazing teeth. Obviously, this culture did not consume sugar!

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Peopling of Europe 2014 – Identifying the Ghost Population

Beginning with the full sequencing of the Neanderthal genome, first published in May 2010 by the Max Planck Institute with Svante Paabo at the helm, and followed shortly thereafter with a Denisovan specimen, we began to unravel our ancient history.

neanderthal reconstructed

Neanderthal man, reconstructed at the National Museum of Nature and Science in Tokyo

The photo below shows a step in the process of extracting DNA from ancient bones at Max Planck.

planck extraction

Our Y and mitochondrial DNA haplogroups take us back thousands of years in time, but at some point, where and how people were settling and intermixing becomes fuzzy. Ancient DNA can put the people of that time and place in context.  We have discovered that current populations do not necessarily represent the ancient populations of a particular locale.

Recent information discovered from ancient burials tells us that the people of Europe descend from a 3 pronged model. Until recently, it was believed that Europeans descended from Paleolithic hunter-gatherers and Neolithic farmers, a two-pronged model.

Previously, it was believed that Europe was peopled by the ancient hunter-gatherers, the Paleolithic, who originally settled in Europe beginning about 45,000 years ago. At this time, the Neanderthal were already settled in Europe but weren’t considered to be anatomically modern humans, and it was believed, incorrectly, that the two groups did not interbreed.  These hunter-gatherers were the people who settled in Europe before the last major ice age, the Younger Dryas, taking refuge in the southern portions of Europe and Eurasia, and repeopling the continent after the ice receded, about 12,000 years ago.  By that time, the Neanderthals were gone, or as we now know, at least partially assimilated.

This graphic shows Europe during the last ice age.

ice age euripe

The second settlement wave, the agriculturalist farmers from the Near East either overran or integrated with the hunter-gatherers in the Neolithic period, depending on which theory you subscribe to, about 8000-10,000 years ago.

2012 – Ancient Northern European (ANE) Hints

Beginning in 2012, we began to see hints of a third lineage that contributed to the peopling of Europe as well, from the north. Buried in the 2012 paper, Estimating admixture proportions and dates with ADMIXTOOLS by Patterson et al, was a very interesting tidbit.  This new technique showed a third population, referred to by many as a “ghost population”, because no one knew who they were, that contributed to the European population.

patterson ane

The new population was termed Ancient North Eurasian, or ANE.

Dienekes covered this paper in his blog, but without additional information, in the community in general, there wasn’t much more than a yawn.

2013 – Mal’ta Child Stirs Excitement

The first real hint of meat on the bones of ANE came in the form of ancient DNA analysis of a 24,000 year old Siberian boy that has come to be named Mal’ta (Malta) Child. In the original paper, by Raghaven et al, Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans, he was referred to as MA-1.  I wrote about this in my article titled Native American Gene Flow – Europe?, Asia and the Americas.   Dienekes wrote about this paper as well.

This revelation caused quite a stir, because it was reported that the Ancestor of Native Americans in Asia was 30% Western Eurasian.  Unfortunately, in some cases, this was immediately interpreted to mean that Native Americans had come directly from Europe which is not what this paper said, nor inferred.  It was also inferred that the haplogroups of this child, R* (Y) and U (mtDNA) were Native American, which is also incorrect.  To date, there is no evidence for migration to the New World from Europe in ancient times, but that doesn’t mean we aren’t still looking for that evidence in early burials.

What this paper did show was that Europeans and Native Americans shared a common ancestor, and that the Siberian population had contributed to the European population as well as the Native American population.  In other words, descendants settled in both directions, east and west.

The most fascinating aspect of this paper was the match distribution map, below, showing which populations Malta child matched most closely.

malta child map

As you can see, MA-1, Malta Child, matches the Native American population most closely, followed by the northern European and Greenland populations. The further south in Europe and Asia, the more distant the matches and the darker the blue.

2013 – Michael Hammer and Haplogroup R

Last fall at the Family Tree DNA conference, Dr. Michael Hammer, from the Hammer Lab at the University of Arizona discussed new findings relative to ancient burials, specifically in relation to haplogroup R, or more specifically, the absence of haplogroup R in those early burials.

hammer 2013

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Based on the various theories and questions, ancient burials were enlightening.

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In 2013, there were a total of 32 burials from the Neolithic period, after farmers arrived from the Near East, and haplogroup R did not appear. Instead, haplogroups G, I and E were found.

hammer 2013-7

What this tells us is that haplogroup R, as well as other haplogroup, weren’t present in Europe at this time. Having said this, these burials were in only 4 locations and, although unlikely, R could be found in other locations.

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Last year, Dr. Hammer concluded that haplogroup R was not found in the Paleolithic and likely arrived with the Neolithic farmers. That shook the community, as it had been widely believed that haplogroup R was one of the founding European haplogroups.

hammer 2013-12

While this provided tantalizing information, we still needed additional evidence. No paper has yet been published that addresses these findings.  The mass full sequencing of the Y chromosome over this past year with the introduction of the Big Y will provide extremely valuable information about the Y chromosome and eventually, the migration path into and across Europe.

2014 – Europe’s Three Ancient Tribes

In September 2014, another paper was published by Lazaridis et al that more fully defined this new ANE branch of the European human family tree.  An article in BBC News titled Europeans drawn from three ancient ‘tribes’ describes it well for the non-scientist.  Of particular interest in this article is the artistic rendering of the ancient individual, based on their genetic markers.  You’ll note that they had dark skin, dark hair and blue eyes, a rather unexpected finding.

In discussing the paper, David Reich from Harvard, one of the co-authors, said, “Prior to this paper, the models we had for European ancestry were two-way mixtures. We show that there are three groups. This also explains the recently discovered genetic connection between Europeans and Native Americans.  The same Ancient North Eurasian group contributed to both of them.”

The paper, Ancient human genomes suggest three ancestral populations for present-day Europeans, appeared as a letter in Nature and is behind a paywall, but the supplemental information is free.

The article summary states the following:

We sequenced the genomes of a ~7,000-year-old farmer from Germany and eight ~8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes1, 2, 3, 4 with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians3, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations’ deep relationships and show that early European farmers had ~44% ancestry from a ‘basal Eurasian’ population that split before the diversification of other non-African lineages.

This paper utilized ancient DNA from several sites and composed the following genetic contribution diagram that models the relationship of European to non-European populations.

Lazaridis tree

Present day samples are colored purple, ancient in red and reconstructed ancestral populations in green. Solid lines represent descent without admixture and dashed lines represent admixture.  WHG=western European hunter-gatherer, EEF=early European farmer and ANE=ancient north Eurasian

2014 – Michael Hammer on Europe’s Ancestral Population

For anyone interested in ancient DNA, 2014 has been a banner years. At the Family Tree DNA conference in Houston, Texas, Dr. Michael Hammer brought the audience up to date on Europe’s ancestral population, including the newly sequenced ancient burials and the information they are providing.

hammer 2014

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Dr. Hammer said that ancient DNA is the key to understanding the historical processes that led up to the modern. He stressed that we need to be careful inferring that the current DNA pattern is reflective of the past because so many layers of culture have occurred between then and now.

hammer 2014-2

Until recently, it was assumed that the genes of the Neolithic farmers replaced those of the Paleolithic hunter-gatherers. Ancient DNA is suggesting that this is not true, at least not on a wholesale level.

hammer 2014-3

The theory, of course, is that we should be able to see them today if they still exist. The migration and settlement pattern in the slide below was from the theory set forth in the 1990s.

hammer 2014-4

In 2013, Dr. Hammer discussed the theory that haplogroup R1b spread into Europe with the farmers from the Near East in the Neolithic. This year, he expanded upon that topic that based on the new findings from ancient burials.

hammer 2014-5

Last year, Dr. Hammer discussed 32 burials from 4 sites. Today, we have information from 15 ancient DNA sites and many of those remains have been full genome sequenced.

hammer 2014-6

Information from papers and recent research suggests that Europeans also have genes from a third source lineage, nicknamed the “ghost population of North Eurasia.”

hammer 2014-7

Scientists are finding a signal of northeast Asian related admixture in northern Europeans, first suggested in 2012.  This was confirmed with the sequencing of Malta child and then in a second sequencing of Afontova Gora2 in south central Siberia.

hammer 2014-8

We have complete genomes from nine ancient Europeans – Mesolithic hunter gatherers and Neothilic farmers. Hammer refers to the Mesolithic here, which is a time period between the Paleolithic (hunter gatherers with stone tools) and the Neolithic (farmers).

hammer 2014-9

In the PCA charts, shown above, you can see that Europeans and people from the Near East cluster separately, except for a bridge formed by a few Mediterranean and Jewish populations. On the slide below, the hunter-gatherers (WHG) and early farmers (EEF) have been overlayed onto the contemporary populations along with the MA-1 (Malta Child) and AG2 (Afontova Gora2) representing the ANE.

hammer 2014-10

When sequenced, separate groups formed including western hunter gathers and early european farmers include Otzi, the iceman.  A third group is the north south clinal variation with ANE contributing to northern European ancestry.  The groups are represented by the circles, above.

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Dr. Hammer said that the team who wrote the “Ancient Human Genomes” paper just recently published used an F3 test, results shown above, which shows whether populations are an admixture of a reference population based on their entire genome. He mentioned that this technique goes well beyond PCA.

hammer 2014-13

Mapped onto populations today, most European populations are a combination of the three early groups. However, the ANE is not found in the ancient Paleolithic or Neolithic burials.  It doesn’t arrive until later.

hammer 2014-14

This tells us that there was a migration event 45,000 years ago from the Levant, followed about 7000 years ago by farmers from the Near East, and that ANE entered the population some time after that. All Europeans today carry some amount of ANE, but ancient burials do not.

These burials also show that southern Europe has more Neolithic farmer genes and northern Europe has more Paleolithic/Mesolithic hunter-gatherer genes.

hammer 2014-15

Pigmentation for light skin came with farmers – blue eyes existed in hunter gatherers even though their skin was dark.

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Dr. Hammer created these pie charts of the Y and mitochondrial haplogroups found in the ancient burials as compared to contemporary European haplogroups.

hammer 2014-17

The pie chart on the left shows the haplogroups of the Mesolithic burials, all haplogroup I2 and subclades. Note that in the current German population today, no I2a1b and no I1 was found.  The chart on the right shows current Germans where haplogroup I is a minority.

hammer 2014-18

Therefore, we can conclude that haplogroup I is a good candidate to be identified as a Paleolithic/Mesolithic haplogroup.

This information shows that the past is very different from today.

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In 2014 we have many more burials that have been sequenced than last year, as shown on the map above.

Green represents Neolithic farmers, red are Mesolithic hunter-gatherers, brown at bottom right represents more recent samples from the Metallic age.

hammer 2014-20

There are a total of 48 Neolithic burials where haplogroup G dominates. In the Mesolithic, there are a total of six haplogroup I.

This suggests that haplogroup I is a good candidate to be the father of the Paleolithic/Mesolithic and haplogroup G, the founding father of the Neolithic.

In addition to haplogroup G in the Neolithic, one sample of both E1b1b1 (M35) and C were also found in Spain.  E1b1b1 isn’t surprising given it’s north African genesis, but C was quite interesting.

The Metal ages, which according to wiki begin about 3300BC in Europe, is where haplogroup R, along with I1, first appear.

diffusion of metallurgy

Please note that the diffusion of melallurgy map above is not part of Dr. Hammer’s presentation. I have added it for clarification.

hammer 2014-21

Nothing is constant in Europe. The Y DNA was very upheaved, as indicated on the graphic above.  Mitochondrial DNA shifted from pre-Neolithic to Neolithic which isn’t terribly different from the present day.

Dr. Hammer did not say this, but looking at the Y versus the mtDNA haplogroups, I wonder if this suggests that indeed there was more of a replacement of the males in the population, but that the females were more widely assimilated. This would certainly make sense, especially if the invaders were warriors and didn’t have females with them.  They would have taken partners from the invaded population.

Haplogroup G represents the spread of farming into Europe.

hammer 2014-22

The most surprising revelation is that haplogroup R1b appears to have emerged after the Neolithic agriculture transition. Given that just three years ago we thought that haplogroup R1b was one of the original European settlers thousands of years ago, based on the prevalence of haplogroup R in Europe today, at about 50%, this is a surprising turn of events.  Last year’s revelation that R was maybe only 7000-8000 years old in Europe was a bit of a whammy, but the age of R in Europe in essence just got halved again and the source of R1b changed from the Near East to the Asian steppes.

Obviously, something conferred an advantage to these R1b men. Given that they arrived in the early Metalic age, was it weapons and chariots that enabled the R1b men who arrived to quickly become more than half of the population?

hammer 2014-23

The Bronze Age saw the first use of metal to create weapons. Warrior identity became a standard part of daily life.  Celts ranged over Europe and were the most dominant iron age warriors.  Indo-European languages and chariots arrived from Asia about this time.

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The map above shows the Hallstadt and LaTene Celtic cultures in Europe, about 600BC. This was not a slide presented by Dr. Hammer.

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Haplogroup R1b was not found in an ancient European context prior to a Bell Beaker period burial in Germany 4.8-4.0 kya (thousand years ago, i.e. 4,800-4,000 years ago).  R1b arrives about 4.6 kya and is also found in a Corded Ware culture burial in Germany.  A late introduction of these lineages which now predominate in Europe corresponds to the autosomal signal of the entry of Asian and Eastern European steppe invaders into western Europe.

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Local expansion occurred in Europe of R1b subgroups U106, L21 and U152.

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A current haplogroup R distribution map that reflects the findings of this past year is shown above.

Haplogroup I is interesting for another reason. It looks like haplogroup I2a1b (M423) may have been replaced by I1 which expanded after the Mesolithic.

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On the slide above, the Loschbour sample from Luxembourg was mapped onto a current haplogroup I SNP map where his closest match is a current day Russian.

One of the benefits of ancient DNA genome processing is that we will be able to map current trees into maps of old SNPs and be able to tell who we match most closely.

Autosomal DNA can also be mapped to see how much of our DNA is from which ancient population.

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Dr. Hammer mapped the percentages of European Mesolithic/Paleolithic hunter-gatherers in blue, Neolithic Farmers from the Near East in magenta and Asian Steppe Invaders representing ANE in yellow, over current populations. Note the ancient DNA samples at the top of the list.  None of the burials except for Malta Child carry any yellow, indicating that the ANE entered the European population with the steppe invaders; the same group that brought us haplogroup R and possibly I1.

Dr. Hammer says that ANE was introduced to and assimilated into the European population by one or more incursions. We don’t know today if ANE in Europeans is a result of a single blast event or multiple events.  He would like to do some model simulations and see if it is related to timing and arrival of swords and chariots.

We know too that there are more recent incursions, because we’re still missing major haplogroups like J.

The further east you go, meaning the closer to the steppes and Volga region, the less well this fits the known models. In other words, we still don’t have the whole story.

At the end of the presentation, Michael was asked if the whole genomes sequenced are also obtaining Y STR data, which would allow us to compare our results on an individual versus a haplogroup level. He said he didn’t know, but he would check.

Family Tree DNA was asked if they could show a personal ancient DNA map in myOrigins, perhaps as an alternate view. Bennett took a vote and that seemed pretty popular, which he interpreted as a yes, we’d like to see that.

In Summary

The advent of and subsequent drop in the price of whole genome sequencing combined with the ability to extract ancient DNA and piece it back together have provided us with wonderful opportunities.  I think this is jut the proverbial tip of the iceberg, and I can’t wait to learn more.

If you are interested in other articles I’ve written about ancient DNA, check out these links:

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

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Ancient DNA Matches – What Do They Mean?

The good news is that my three articles about the Anzick and other ancient DNA of the past few days have generated a lot of interest.

The bad news is that it has generated hundreds of e-mails every day – and I can’t possibly answer them all personally.  So, if you’ve written me and I don’t reply, I apologize and  I hope you’ll understand.  Many of the questions I’ve received are similar in nature and I’m going to answer them in this article.  In essence, people who have matches want to know what they mean.

Q – I had a match at GedMatch to <fill in the blank ancient DNA sample name> and I want to know if this is valid.

A – Generally, when someone asks if an autosomal match is “valid,” what they really mean is whether or not this is a genealogically relevant match or if it’s what is typically referred to as IBS, or identical by state.  Genealogically relevant samples are referred to as IBD, or identical by descent.  I wrote about that in this article with a full explanation and examples, but let me do a brief recap here.

In genealogy terms, IBD is typically used to mean matches over a particular threshold that can be or are GENEALOGICALLY RELEVANT.  Those last two words are the clue here.  In other words, we can match them with an ancestor with some genealogy work and triangulation.  If the segment is large, and by that I mean significantly over the threshold of 700 SNPs and 7cM, even if we can’t identify the common ancestor with another person, the segment is presumed to be IBD simply because of the math involved with the breakdown of segment into pieces.  In other words, a large segment match generally means a relatively recent ancestor and a smaller segment means a more distant ancestor.  You can readily see this breakdown on this ISOGG page detailing autosomal DNA transmission and breakdown.

Unfortunately, often smaller segments, or ones determined to be IBS are considered to be useless, but they aren’t, as I’ve demonstrated several times when utilizing them for matching to distant ancestors.  That aside, there are two kinds of IBS segments.

One kind of IBS segment is where you do indeed share a common ancestor, but the segment is small and you can’t necessarily connect it to the ancestor.  These are known as population matches and are interpreted to mean your common ancestor comes from a common population with the other person, back in time, but you can’t find the common ancestor.  By population, we could mean something like Amish, Jewish or Native American, or a country like Germany or the Netherlands.

In the cases where I’ve utilized segments significantly under 7cM to triangulate ancestors, those segments would have been considered IBS until I mapped them to an ancestor, and then they suddenly fell into the IBD category.

As you can see, the definitions are a bit fluid and are really defined by the genealogy involved.

The second kind of IBS is where you really DON’T share an ancestor, but your DNA and your matches DNA has managed to mutate to a common state by convergence, or, where your Mom’s and Dad’s DNA combined form a pseudo match, where you match someone on a segment run long enough to be considered a match at a low level.  I discussed how this works, with examples, in this article.  Look at example four, “a false match.”

So, in a nutshell, if you know who your common ancestor is on a segment match with someone, you are IBD, identical by descent.  If you don’t know who your common ancestor is, and the segment is below the normal threshold, then you are generally considered to be IBS – although that may or may not always be true.  There is no way to know if you are truly IBS by population or IBS by convergence, with the possible exception of phased data.

Data phasing is when you can compare your autosomal DNA with one or both parents to determine which half you obtained from whom.  If you are a match by convergence where your DNA run matches that of someone else because the combination of your parents DNA happens to match their segment, phasing will show that clearly.  Here’s an example for only one location utilizing only my mother’s data phased with mine.  My father is deceased and we have to infer his results based on my mother’s and my own.  In other words, mine minus the part I inherited from my mother = my father’s DNA.

My Result My Result Mother’s Result Mother’s Result Father’s Inferred Result Father’s Inferred Result
T A T G A

In this example of just one location, you can see that I carry a T and an A in that location.  My mother carries a T and a G, so I obviously inherited the T from her because I don’t have a G.  Therefore, my father had to have carried at least an A, but we can’t discern his second value.

This example utilized only one location.  Your autosomal data file will hold between 500,000 and 700,000 location, depending on the vendor you tested with and the version level.

You can phase your DNA with that of your parent(s) at GedMatch.  However, if both of your parents are living, an easier test would be to see if either of your parents match the individual in question.  If neither of your parents match them, then your match is a result of convergence or a data read error.

So, this long conversation about IBD and IBS is to reach this conclusion.

All of the ancient specimens are just that, ancient, so by definition, you cannot find a genealogy match to them, so they are not IBD.  Best case, they are IBS by population.  Worse case, IBS by convergence.  You may or may not be able to tell the difference.  The reason, in my example earlier this week, that I utilized my mother’s DNA and only looked at locations where we both matched the ancient specimens was because I knew those matches were not by convergence – they were in fact IBS by population because my mother and I both matched Anzick.

ancient compare5

Q – What does this ancient match mean to me?

A – Doggone if I know.  No, I’m serious.  Let’s look at a couple possibilities, but they all have to do with the research you have, or have not, done.

If you’ve done what I’ve done, and you’ve mapped your DNA segments to specific ancestors, then you can compare your ancient matching segments to your ancestral spreadsheet map, especially if you can tell unquestionably which side the ancestral DNA matches.  In my case, shown above, the Clovis Anzik matched my mother and me on the same segment and we both matched Cousin Herbie.  We know unquestionably who our common ancestor is with cousin Herbie – so we know, in our family line, which line this segment of DNA shared with Anzick descends through.

ancient compare6

If you’re not doing ancestor mapping, then I guess the Anzick match would come in the category of, “well, isn’t that interesting.”  For some, this is a spiritual connection to the past, a genetic epiphany.  For other, it’s “so what.”

Maybe this is a good reason to start ancestor mapping!  This article tells you how to get started.

Q – Does my match to Anzick mean he is my ancestor?

A – No, it means that you and Anzick share common ancestry someplace back in time, perhaps tens of thousands of years ago.

Q – I match the Anzick sample.  Does this prove that I have Native American heritage? 

A – No, and it depends.  Don’t you just hate answers like this?

No, this match alone does not prove Native American heritage, especially not at IBS levels.  In fact, many people who don’t have Native heritage match small segments?  How can this be?  Well, refer to the IBS by convergence discussion above.  In addition, Anzick child came from an Asian population when his ancestors migrated, crossing from Asia via Beringia.  That Eurasian population also settled part of Europe – so you could be matching on very small segments from a common population in Eurasia long ago.  In a paper just last year, this was discussed when Siberian ancient DNA was shown to be related to both Native Americans and Europeans.

In some cases, a match to Anzick on a segment already attributed to a Native line can confirm or help to confirm that attribution.  In my case, I found the Anzick match on segments in the Lore family who descend from the Acadians who were admixed with the Micmac.  I have several Anzick match segments that fit that criteria.

A match to Anzick alone doesn’t prove anything, except that you match Anzick, which in and of itself is pretty cool.

Q – I’m European with no ancestors from America, and I match Anzick too.  How can that be?

A – That’s really quite amazing isn’t it.  Just this week in Nature, a new article was published discussing the three “tribes” that settled or founded the European populations.  This, combined with the Siberian ancient DNA results that connect the dots between an ancient population that contributed to both Europeans and Native Americans explains a lot.

3 European Tribes

If you think about it, this isn’t a lot different than the discovery that all Europeans carry some small amount of Neanderthal and Denisovan DNA.

Well, guess what….so does Anzick.

Here are his matches to the Altai Neanderthal.

Chr Start Location End Location Centimorgans (cM) SNPs
2 241484216 242399416 1.1 138
3 19333171 21041833 2.6 132
6 31655771 32889754 1.1 133

He does not match the Caucasus Neanderthal.  He does, however, match the Denisovan individual on one location.

Chr Start Location End Location Centimorgans (cM) SNPs
3 19333171 20792925 2.1 107

Q – Maybe the scientists are just wrong and the burial is not 12,500 years old,  maybe just 100 years old and that’s why the results are matching contemporary people.

A – I’m not an archaeologist, nor do I play one…but I have been closely involved with numerous archaeological excavations over the past decade with The Lost Colony Research Group, several of which recovered human remains.  The photo below is me with Anne Poole, my co-director, sifting at one of the digs.

anne and me on dig

There are very specific protocols that are followed during and following excavation and an error of this magnitude would be almost impossible to fathom.  It would require  kindergarten level incompetence on the part of not one, but all professionals involved.

In the Montana Anzick case, in the paper itself, the findings and protocols are both discussed.  First, the burial was discovered directly beneath the Clovis layer where more than 100 tools were found, and the Clovis layer was undisturbed, meaning that this is not a contemporary burial that was buried through the Clovis layer.  Second, the DNA fragmentation that occurs as DNA degrades correlated closely to what would be expected in that type of environment at the expected age based on the Clovis layer.  Third, the bones themselves were directly dated using XAD-collagen to 12,707-12,556 calendar years ago.  Lastly, if the remains were younger, the skeletal remains would match most closely with Native Americans of that region, and that isn’t the case.  This graphic from the paper shows that the closest matches are to South Americans, not North Americans.

anzick matches

This match pattern is also confirmed independently by the recent closest GedMatch matches to South Americans.

Q – How can this match from so long ago possibly be real?

A – That’s a great question and one that was terribly perplexing to Dr. Svante Paabo, the man who is responsible for producing the full genome sequence of the first, and now several more, Neanderthals.  The expectation was, understanding autosomal DNA gets watered down by 50% in every generation though recombination, that ancient genomes would be long gone and not present in modern populations.  Imagine Svante’s surprise when he discovered that not only isn’t true, but those ancient DNA segmetns are present in all Europeans and many Asians as well.  He too agonized over the question about how this is possible, which he discussed in this great video.  In fact he repeated these tests over and over in different ways because he was convinced that modern individuals could not carry Neanderthal DNA – but all those repeated tests did was to prove him right.  (Paabo’s book, Neanderthal Man, In Search of Lost Genomes is an incredible read that I would highly recommend.)

What this means is that the population at one time, and probably at several different times, had to be very small.  In fact, it’s very likely that many times different pockets of the human race was in great jeopardy of dying out.  We know about the ones that survived.  Probably many did perish leaving no descendants today.  For example, no Neanderthal mitochondrial DNA has been found in any living or recent human.

In a small population, let’s say 5 males and 5 females who some how got separated from their family group and founded a new group, by necessity.  In fact, this could well be a description of how the Native Americans crossed Beringia.  Those 5 males and 5 females are the founding population of the new group.  If they survive, all of the males will carry the men’s haplogroups – let’s say they are Q and C, and all of the descendants will carry the mitochondrial haplogroups of the females – let’s say A, B, C, D and X.

There is a very limited amount of autosomal DNA to pass around.  If all of those 10 people are entirely unrelated, which is virtually impossible, there will be only 10 possible combinations of DNA to be selected from.  Within a few generations, everyone will carry part of those 10 ancestor’s DNA.  We all have 8 ancestors at the great-grandparent level.  By the time those original settlers’ descendants had great-great-grandparents – of which each one had 16, at least 6 of those original people would be repeated twice in their tree.

There was only so much DNA to be passed around.  In time, some of the segments would no longer be able to be recombined because when you look at phasing, the parents DNA was exactly the same, example below.  This is what happens in endogamous populations.

My Result My Result Mother’s Result Mother’s Result Father’s Result Father’s  Result
T T T T T T

Let’s say this group’s descendants lived without contact with other groups, for maybe 15,000 years in their new country.  That same DNA is still being passed around and around because there was no source for new DNA.  Mutations did occur from time to time, and those were also passed on, of course, but that was the only source of changed DNA – until they had contact with a new population.

When they had contact with a new population and admixture occurred, the normal 50% recombination/washout in every generation began – but for the previous 15,000 years, there had been no 50% shift because the DNA of the population was, in essence, all the same.  A study about the Ashkenazi Jews that suggests they had only a founding population of about 350 people 700 years ago was released this week – explaining why Ashkenazi Jewish descendants have thousands of autosomal matches and match almost everyone else who is Ashkenazi.  I hope that eventually scientists will do this same kind of study with Anzick and Native Americans.

If the “new population” we’ve been discussing was Native Americans, their males 15,000 year later would still carry haplogroups Q and C and the mitochondrial DNA would still be A, B, C, D and X.  Those haplogroups, and subgroups formed from mutations that occurred in their descendants, would come to define their population group.

In some cases, today, Anzick matches people who have virtually no non-Native admixture at the same level as if they were just a few generations removed, shown on the chart below.

anzick gedmatch one to all

Since, in essence, these people still haven’t admixed with a new population group, those same ancient DNA segments are being passed around intact, which tells us how incredibly inbred this original small population must have been.  This is known as a genetic bottleneck.

The admixture report below is for the first individual on the Anzick one to all Gedmatch compare at 700 SNPs and 7cM, above.  In essence, this currently living non-admixed individual still hasn’t met that new population group.

anzick1

If this “new population” group was Neanderthal, perhaps they lived in small groups for tens of thousands of years, until they met people exiting Africa, or Denisovans, and admixed with them.

There weren’t a lot of people anyplace on the globe, so by virtue of necessity, everyone lived in small population groups.  Looking at the odds of survival, it’s amazing that any of us are here today.

But, we are, and we carry the remains, the remnants of those precious ancestors, the Denisovans, the Neanderthals and Anzick.  Through their DNA, and ours, we reach back tens of thousands of years on the human migration path.  Their journey is also our journey.  It’s absolutely amazing and it’s no wonder people have so many questions and such a sense of enchantment.  But it’s true – and only you can determine exactly what this means to you.

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Utilizing Ancient DNA at GedMatch

Mummy of 6 month old boy found in Greenland

It has been a wonderful week for those of us following ancient DNA full genome sequencing, because now we can compare our own results to those of the ancient people found whose DNA has been fully sequenced, including one Native American.

Felix Chandrakumar has uploaded the autosomal files of five ancient DNA specimens that have been fully sequenced to GedMatch.  Thanks Felix.

When news of these sequences first hit the academic presses, I was wishing for a way to compare our genomes – and now my wish has come true.

Utilizing GedMatch’s compare one to all function, I ran all of the sequences individually and found, surprisingly, that there are, in some cases, matches to contemporary people today.  I dropped the cM measure to 1 for both autosomal and X.

Please note that because these are ancient DNA sequences, they will all have some segments missing and none can be expected to be entirely complete.  Still, these sequences are far better than nothing.

1.  Montana Anzick at GedMatch

This is the only clearly Native American sample.

http://www.y-str.org/2014/09/clovis-anzick-dna.html

F999912

9-27-2014 – Please note that kit F999912 has been replaced by kit F999913.

10-23-2014 – Please note that kit F999913 has been replaced by kit F999919.

No matches at 1cM in the compare to all.  This must be because the SNP count is still at default thresholds, in light of information discovered later in this article.

Update – as it turns out, this kit was not finished processing when I did the one to one compare.  After it finished, the results were vastly different.  See this article for results.

2.  Paleo Eskimo from Greenland at GedMatch

http://www.y-str.org/2013/12/palaeo-eskimo-2000-bc-dna.html

F999906

Thirty-nine matches with segments as large at 3.8.  One group of matches appears to be a family.  One of these matches is my cousin’s wife.  That should lead to some interesting conversation around the table this holiday season!  All of these matches, except 1, are on the X chromosome.  This must be a function of these segments being passed intact for many generations.

I wrote about some unusual properties of X chromosomal inheritance and this seems to confirm that tendency in the X chromosome, or the matching thresholds are different at GedMatch for the X.

3.  Altai Neanderthal at GedMatch

http://www.y-str.org/2013/08/neanderthal-dna.html

F999902

One match to what is obviously another Neaderthal entry.

4.  Russian Causasus Neanderthal at GedMatch

Another contribution from the Neanderthal Genome Project.

http://www.y-str.org/2014/09/mezmaiskaya-neanderthal-dna.html

F999909

No matches.

5.  Denisova at GedMatch

http://www.y-str.org/2013/08/denisova-dna.html

F999903

Two matches, one to yet another ancient entry and one to a contemporary individual on the X chromosome.

But now, for the fun part.

My Comparison

Before I start this section, I want to take a moment to remind everyone just how old these ancient segments are.

  • Anzick – about 12,500 years old
  • Paleo-Eskimo – about 4,000 years old
  • Altai Neanderthal – about 50,000 years old
  • Russian Caucasus Neanderthal – about 29,000 years old
  • Denisova – about 30,000 years old

In essence, the only way for these segments to survive intact to today would have been for them to enter the population of certain groups, as a whole, to be present in all of the members of that group, so that segment would no longer be divided and would be passed intact for many generation, until that group interbred with another group who did not carry that segment.  This is exactly what we see in endogamous populations today, such as the Askenazi Jewish population who is believed, based on their common shared DNA, to have descended from about 350 ancestors about 700 years ago.  Their descendants today number in the millions.

So, let’s see what we find.

I compared by own kit at GedMatch utilizing the one to one comparison feature, beginning with 500 SNPs and 1cM, dropping the SNP values to 400, then 300, then 200, until I obtained a match of some sort, if I obtained a match at all.

Typically in genetic genealogy, we’re looking for genealogy matches, so the default matching thresholds are set relatively high.  In this case, I’m looking for deep ancestral connections, if they exist, so I was intentionally forcing the thresholds low.  I’m particularly interested in the Anzick comparison, in light of my Native American and First Nations heritage.

The definition of IBS, identical by state, vs IBD, identical by descent segments varies by who is talking and in what context, but in essence, IBD means that there is a genealogy connection in the past several generations.

IBS means that the genealogy connection cannot be found and the IBS match can be a function of coming from a common population at some time in the past, or it can be a match by convergence, meaning that your DNA just happened to mutate to the same state as someone else’s.  If this is the case, then you wouldn’t expect to see multiple segments matching the same person and you would expect the matching segments to be quite short.  The chances of hundreds of SNPs just happening to align becomes increasingly unlikely the longer the matching SNP run.

So, having said that, here are my match results.

Anzick

I had 2 matches at 400 SNPs, several at 300 and an entire list at 200, shown below.

Chr Start Location End Location Centimorgans (cM) SNPs
1 6769350 7734985 1.7 232
1 26552555 29390880 1.9 264
1 31145273 33730360 2.7 300
1 55655110 57069976 1.9 204
1 71908934 76517614 2.8 265
1 164064635 165878596 2.8 264
1 167817718 171330902 3.3 466
1 186083870 192208998 4.2 250
2 98606363 100815734 1.4 256
2 171132725 173388331 2.0 229
2 218855489 220373983 2.5 261
3 128892631 131141396 1.7 263
3 141794591 143848459 2.5 207
4 1767539 3571907 2.7 235
4 70345811 73405268 2.5 223
5 2340730 2982499 2.3 200
5 55899022 57881001 2.3 231
5 132734528 134538202 1.9 275
5 137986213 140659207 1.7 241
6 34390761 36370969 1.8 293
8 17594903 18464321 1.9 200
8 23758017 25732105 1.7 240
8 109589884 115297391 1.9 203
9 122177526 124032492 1.6 229
10 101195132 102661955 1.2 264
10 103040561 105596277 1.3 304
10 106135611 108371247 1.5 226
12 38689229 41184500 1.6 247
13 58543514 60988948 1.6 220
13 94528801 95252127 1.0 277
14 60929984 62997711 1.8 255
14 63724184 65357663 1.7 201
14 72345879 74206753 1.7 263
15 36850933 38329491 2.7 238
16 1631282 2985328 2.5 273
16 11917282 13220406 3.7 276
16 15619825 17324720 3.1 305
16 29085336 31390250 1.3 263
16 51215026 52902771 3.4 224
17 52582669 56643678 4.7 438
19 11527683 13235913 1.7 203
19 15613137 16316773 1.2 204
19 46195917 49338412 3.3 397
20 17126434 18288231 2.1 225
21 35367409 36969215 4.1 254
21 42399499 42951171 1.6 233
22 33988022 35626259 5.0 289

In my case, I’m particularly fortunate, because my mother tested her DNA as well.  By process of elimination, I can figure out which of my matches are through her, and then by inference, which are through my father or are truly IBS by convergence.

I carry Native heritage on both sides, but my mother’s is proven to specific Native ancestors where my father’s is only proven to certain lines and not yet confirmed through genealogy records to specific ancestors.

Because I had so many matches, quite to my surprise, I also compared my mother’s DNA to the Anzick sample, combined the two results and put them in a common spreadsheet, shown below.  White are my matches.  Pink are Mom’s matches, and the green markers are on the segments where we both match the Anzick sample, confirming that my match is indeed through mother.

ancient compare

We’ll work with this information more in a few minutes.

Paleo

At 200 SNP level, 2 segments.

1 26535949 27884441 1.1 258
2 127654021 128768822 1.2 228

My mother matches on 9 segments, but neither of the two above, so they are either from my father’s side or truly IBS by convergence.

Altai Neanderthal

ancient compare2

Russian Neanderthal

Neither my mother nor I have any matches at 100SNPs and 1cM.

Denisovan

I have one match.

Chr Start Location End Location Centimorgans (cM) SNPs
4 8782230 9610959 1.2 100

My mother matches 2 segments at 100 SNPs but neither match is the same as my segment.

Matching to Ancestral Lines

I’ve been mapping my DNA to specific ancestors utilizing the genealogy information of matches and triangulation for some time.  This consists of finding common ancestors with your matches.  Finding one person who matches you and maps to a common ancestor on a particular segment consists of a hint.  Finding two that share the same ancestral line and match you and each other on the same segment is confirmation – hence, the three of you triangulate.  More than three is extra gravy:)

I have also recorded other relevant information in my matches file, like the GedMatch Native chromosomal comparisons when I wrote “The Autosomal Me” series about hunting for my Native chromosomal segments.

So, after looking at the information above, it occurred to me that I should add this ancestral match information to my matches spreadsheet, just for fun, if nothing else.

I added these matches, noted the source as GedMatch and then sorted the results, anxious to see what we might find.  Would at least one of these segments fall into the proven Native segments or the matches to people who also descend from those lines?

What I found was both astonishing and confusing….and true to form to genealogy, introduced new questions.

I have extracted relevant matching groups from my spreadsheet and will discuss them and why they are relevant.  You can click on any of the images to see a larger image.

ancient compare3

This first set of matches is intensely interesting, and equally as confusing.

First, these matches are to both me and mother, so they are confirmed through my mother’s lines.  In case anyone notices, yes, I did switch my mother’s line color to white and mine to pink to be consistent with my master match spreadsheet coloration.

Second, both mother and I match the Anzick line on the matches I’ve utilized as examples.

Third, both 23andMe and Dr. Doug McDonald confirmed the segments in red as Native which includes the entire Anzick segment.

Fourth, utilizing the Gedmatch admixture tools, mother and I had this range in common.  I described this technique in “The Autosomal Me” series.

Fifth, these segments show up for two distinct genealogy lines that do not intersect until my grandparents, the Johann Michael Miller line AND the Acadian Lore line.

Sixth, the Acadian Lore line is the line with proven Native ancestors.

Seventh, the Miller line has no Native ancestors and only one opportunity for a Native ancestor, which is the unknown wife of Philip Jacob Miller who married about 1750 to a women rumored to be Magdalena Rochette, but research shows absolutely no source for that information, nor any Rochette family anyplace in any proximity in the same or surrounding counties to the Miller family.  The Miller’s were Brethren.  Furthermore, there is no oral history of a Native ancestor in this line, but there have been other hints along the way, such as the matching segments of some of the “cousins” who show as Native as well.

Eighth, this makes my head hurt, because this looks, for all the world, like Philip Jacob Miller who was living in Bedford County, PA when he married about 1750 may have married someone related to the Acadian lines who had intermarried with the Micmac.  While this is certainly possible, it’s not a possibility I would ever have suspected.

Let’s see what else the matches show.

ancient compare4

In this matching segment Mom and I both match Emma, who descends from Marie, a MicMac woman.  Mom’s Anzik match is part of this same segment.

ancient compare5

In this matching segment, Mom and I both match cousin Denny who descends from the Lore line who is Acadian and confirmed to have MicMac ancestry.  Mom’s Anzik segments all fit in this range as well.

ancient compare6

In this matching segment, cousin Herbie’s match to Mom and I falls inside the Anzick segments of both Mom and I.

ancient compare7

More matching to the proven Miller line.

ancient compare8

This last grouping with Mom is equally as confusing at the first.  Mom and I both match cousin Denny on the Lore side, proven Acadian.

Mom and I both match the Miller side too, and the Anzik for both of us falls dead center in these matches.

There are more, several more matches, that also indicate these same families, but I’m not including them because they don’t add anything not shown in these examples.  Interestingly enough, there are no pointers to other families, so this isn’t something random.  Furthermore, on my father’s side, as frustrating as it is, here are no Anzick matches that correlate with proven family lines.  ARGGHHHHHH……

On matches that I don’t share with mother, there is one of particular interest.

ancient compare9

You’ll notice that the Anzik and the Paleo-Greenland samples match each other, as well as me.  This is my match, and by inference, not through mother.  Unfortunately, the other people in this match group don’t know their ancestors or we can’t identify a common ancestor.

Given the genetic genealogy gold standard of checking to see if your autosomal matches match each other, I went back to GedMatch to see if the Paleo-Greenland kit matched the Clovis Anzik kit on this segment, and indeed, they do, plus many more segments as well.  So, at some time, in some place, the ancestors of these two people separated by thousands of miles were related to each other.  Their common ancestor would have either been in Asia or in the Northern part of Canada if the Paleo people from Greenland entered from that direction.

Regardless, it’s interesting, very interesting.

What Have I Learned?

Always do experiments.  You never know what you’ll find.

I’m much more closely related to the Anzick individual than I am to the others. This isn’t surprising given my Native heritage along with the endogamous culture of the Acadians.

My relationship level to these ancient people is as follows:

Lived Years Ago Relatedness Comments
Montana Anzick 12,500 107.4cM at 200 SNP level Confirmed to Lore (Acadian) and Miller, but not other lines
Greenland Paleo 4,000 2.3cM at 200 SNP level No family line matches, does match to Anzick in one location
Altai Neanderthal 50,000 2.1cM at 200 SNP level No family line matches
Russian Neanderthal 29,000 0
Denisovan 30,000 1.2cM at 200 SNP No family line matches

The Lores and the Millers

Looking further at the Lore and Miller lines, there are only two options for how these matching segments could have occurred.  There are too many for them all to be convergence, so we’ll have to assume that they are indeed because we shared a common population at some time and place.

The nature of how small the segments are testify that this is not a relatively recent common ancestor, but how “unrecent” is open to debate.  Given that Neanderthal and Denisovan ancient segments are found in all Europeans today, it’s certainly possible for these segments to be passed intact, even after thousands of years.

The confirmations to the Lore line come through proven Lore cousins and also through other proven Acadian non-specific matches.  This means that the Acadian population is highly endogamous and when I find an Acadian match, it often means that I’m related through many ancestors many times.  This, of course, increases the opportunity for the DNA to be passed forward, and decreases the opportunity for it to be lost in transmission, but it also complicates the genealogy greatly and makes determining which ancestor the DNA segment came from almost impossible.

However, I think we are safe to say the segments are from the Acadian population, although my assumption would be that they are from the Native Ancestors and not the French, given the high number of Anzick matches, Anzick being proven to be Native.  Having said that, that assumption may not be entirely correct.

The Miller line is relatively well documented and entirely from Germany/Switzerland, immigrating in the early 1700s, with the exception of the one unknown wife in the first generation married in the US.  Further examination would have to be done to discover if any of the matches came through Johann Michael Miller’s sons other than Philip Jacob Miller, my ancestor.  There are only three confirmed children, all sons.  If this segment shows up in Johann Michael Miller’s line not associated with son Philip Jacob Miller, then we would confirm that indeed the segment came from Europe and not a previously unknown Native or mixed wife of Philip Jacob.

Bottom Line

So, what’s the bottom line here?  I know far more than I did.  The information confirms, yet again, the Acadian Native lines, but it introduces difficult questions about the Miller line.  I have even more tantalizing questions for which I have no answers today, but I tell you what, I wouldn’t trade this journey along the genetic pathway with all of its unexpected bumps, rocks, slippery slopes and crevices for anything!!  That’s why it’s called an adventure!

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Disclosure

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

Thank you so much.

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Finding Your Inner Neanderthal with Evolutionary Geneticist Svante Paabo

Svante Paabo is the father of ancient DNA extraction, beginning many years ago with Egyptian mummies. His lecture style is wonderful and understandable. I would love to attend one of his lectures. Today, he is one of two tenured professors in Evolutionary Genetics at Max Planck in Germany.

His speech if in conjunction with the opening of the exhibition of “Genome, Unlocking Life’s Code” at the National Institute of Health.

Archaic Genomics – this video is very similar to the one above although the Q and A at the end is different.  So if you watch the first one, then in the second one, just skip to the end of his lecture.  There Q&A is very worthwhile in both of these videos.

neanderthal manSvante Paabo documented his path to the Neanderthal genome in his marvelous book, Neanderthal Man: In Search of Lost Genomes recently published. It’s an amazing book, written in a very personal and approachable manner and easily understood by the non-scientist. It’s an amazing story and we’re lucky to have Dr. Paabo to share it with us.

If you carry Asian or European DNA, you have Neanderthal ancestors, and you’ll want to watch these videos and read this book.

______________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research