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 DNA Monkey Wrenches 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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FamilyTreeDNA Keynote, RootsTech Wrap + Special Show Pricing Still Available

Am I ever whipped. My two live Sessions that were actually a series of three classes each took place on Friday. Yes, that means I presented 6 sessions on Friday, complete with a couple of Zoom gremlins, of course. It’s the nature of the time we live in.

RootsTech tried something new that they’ve never done before. The Zoom class sessions were restricted to 500 attendees each. RootsTech was concerned about disappointed attendees when the room was full and they couldn’t get in, so we live-streamed three of my sessions to Facebook in addition to the 500 Zoom seats.

As of this evening, 6,800 of you have viewed the Facebook video, “Associating Autosomal DNA Segments With Ancestors.” I’m stunned, and touched. Thank you, thank you. Here’s the Facebook link, and here’s the RootsTech YouTube link.

My afternoon sessions, “What Can I DO With Ancestral DNA Segments?” can be viewed here at RootsTech or here on YouTube.

I must admit, I’m really, REALLY looking forward to being together again because RootsTech without the socializing and in-person Expo Hall just isn’t the same. Still, be sure to take a virtual walk through the Expo Hall, here. There’s lots of content in the vendors” booths and it will remain available for all of 2022, until the beginning of RootsTech 2023..

Between prep for my classes and presenting, I didn’t have a lot of time to watch other sessions, but I was able to catch the FamilyTreeDNA keynote and their 2022 Product Sneak Peek. Both were quite worthwhile.

However, I just realized that FamilyTreeDNA’s special show pricing promo codes are still valid for the next two days.

 Special Prices Are Still Available

Every single test that FamilyTreeDNA offers, including UPGRADES, is on sale right now by using special RootsTech promo codes. These prices are good for two more days, through March 7th, so if you want to purchase a Y DNA test, mitochondrial, or Family Finder autosomal test, or upgrade, click here to see the prices only available at RootsTech (and to you through my blog.) It’s not too late, but it will be soon.

To order, click here to sign on or place your order.

FamilyTreeDNA’s Keynote

FamilyTreeDNA’s keynote was titled FamilyTreeDNA: 22 Years of Breaking Down Brick Walls.

I really enjoyed this session, in part because I’ve been a part of the genetic genealogy revolution and evolution from the beginning. Not only that, but I know every single person they interviewed for this video, and have for years. If you’ve been participating in genetic genealogy for some time, you’ll know many of these people too. For a minute, it was almost as good as visiting in person.

I’m going to share a few highlights from the session, but I’m also going to include information NOT in the video. I was one of the early project administrators, so I’ve been along for the ride for just a few months shy of 22 years.

FamilyTreeDNA was the first US company to enter the DNA testing space, the first to offer Y DNA testing, and the only one of the early companies that remains viable today. FamilyTreeDNA was the result of Bennett Greenspan’s dream – but initially, he was only dreaming small. Just like any other genealogist – he was dreaming about breaking down a brick wall which he explains in the video.

I’m so VERY grateful that Bennett had that dream, and persisted, because it means that now millions of us can do the same – and will into the future.

Bennett tells this better than anyone else, along with his partner, Max Blankfeld.

“Some people were fascinated,” Bennett said.

Yep, that’s for sure! I certainly was.

“Among the first genetic genealogists in the world.”

“Frontier of the genetic genealogy revolution.”

Indeed, we were and still are. Today’s genetic genealogy industry wouldn’t even exist were it not for FamilyTreeDNA and their early testers.

I love Max Blankfeld’s story of their first office, and you will too.

This IS the quintessential story of entrepreneurship.

In 2004, when FamilyTreeDNA was only four years old, they hosted the very first annual international project administrator’s conference. At that time, it was believed that the only people that would be interested in learning at that level and would attend a DNA conference would be project administrators who were managing surname and regional projects. How times have changed! This week at RootsTech, we probably had more people viewing DNA sessions than people that had tested altogether in 2004. I purchased kit number 30,087 on December 28, 2004, and kit 50,000 a year later on New Year’s Eve right at midnight!

In April 2005, Nat Geo partnered with FamilyTreeDNA and founded the Genographic Project which was scheduled to last for 5 years. They were hoping to attract 100,000 people who would be willing to test their DNA to discover their roots – and along with that – our human roots. The Genographic Project would run for an incredible 15 years.

In 2005 when the second Project Administrator’s conference was held at the National Geographic Society headquarters in Washington DC, I don’t think any of us realized the historic nature of the moment we were participating in.

I remember walking from my hotel, ironically named “Helix,” to that iconic building. I had spent my childhood reading those yellow magazines at school and dreaming of far-away places. As an adult, I had been a life-long subscriber. Never, in my wildest dreams did I imagine ever visiting Nat Geo and walking the marble Explorer’s Hall with the portraits of the founders and early explorers hanging above and keeping a watchful eye on us. We would not disappoint them.

That 100,000 participation goal was quickly reached, within weeks, and surpassed, leading us all to walk the road towards the building that housed the Explorer’s Hall, Explorers’ in Residence, and so much more.

We were all explorers, pioneers, adventurers seeking to use the DNA from our ancestors in the past to identify who they were. Using futuristic technology tools like a mirror to look backward into the dim recesses of the past.

The archaeology being unearthed and studied was no longer at the ends of the earth but within our own bodies. The final frontier. Reaching out to explore meant reaching inward, and backward in time, using the most progressive technology of the day.

Most of the administrators in attendance, all volunteers, were on a first-name basis with each other and also with Max, Bennett, and the scientists.

Here, Bennett with a member of the science team from the University of Arizona describes future research goals. Every year FamilyTreeDNA has improved its products in numerous ways.

Today, that small startup business has its own ground-breaking state-of-the-art lab. More than 10,000 DNA projects are still administered by passionate volunteer administrators who focus on what they seek – such as the history of their surname or a specific haplogroup. Their world-class lab allows FamilyTreeDNA to focus on research and science in addition to DNA processing. The lab allows constant improvement so their three types of genetic genealogy products, Y, mitochondrial and autosomal DNA.

Those three types of tests combine to provide genealogical insights and solutions. The more the science improves, the more solutions can and will be found.

If you watch the video, you’ll see 6 people who have solved particularly difficult and thorny problems. We are all long-time project administrators, all participate on a daily basis in this field and community – and all have an undying love for both genealogy and genetic genealogy.

You’ll recognize most of these people, including yours truly.

  • I talk about my mother’s heritage, unveiled through mitochondrial DNA.
  • Rob Warthen speaks about receiving a random phone call from another genealogist as his introduction to genetic genealogy. Later, he purchased a DNA test for his girlfriend, an adoptee, for Christmas and sweetened the deal by offering to “go where you’re from” for vacation. He didn’t realize why she was moved to tears – that test revealed the first piece of information she had ever known about her history. DNA changed her and Rob’s life. He eventually identified her birth parents – and went on to found both DNAAdoption.org and DNAGedcom.
  • Richard Hill was adopted and began his search in his 30s, but it would be DNA that ended his search. His moving story is told in his book, Finding Family: My Search for Roots and the Secrets in My DNA.
  • Mags Gaulden, professional genealogist and founder of Grandma’s Genes and MitoYDNA.org tells about her 91-year-old adopted client who had given up all hope of discovering her roots. Back in the 1950s, there was literally nothing in her client’s adoption file. She was reconciled to the fact that “I would never know who I was.” Mags simply could not accept that and 2 years later, Mags found her parents’ names.

  • Lara Diamond’s family was decimated during the holocaust. Lara’s family thought everyone in her grandfather’s family had been killed, but in 2013, autosomal DNA testing let her to her grandfather’s aunt who was not killed in the holocaust as everyone thought. The aunt and first cousin were living in Detroit. Lara went from almost no family to a family reunion, shown above. She says she finally met “people who look like me.”
  • Katherine Borges founded ISOGG.org, the International Society of Genetic Genealogy in 2005, following the first genetic genealogy conference in late 2004 where she realized that the genealogy community desperately needed education – beginning with DNA terms. I remember her jokingly standing in the hallway saying that she understood three words, “a, and and the.” While that’s cute today, it was real at that time because DNA was a foreign language, technology, and concept to genealogy. In fact, for years we were banned from discussing the topic on RootsWeb. The consummate genetic genealogist, Katherine carries DNA kits in her purse, even to Scotland!

Bennett says that he’s excited about the future, for the next generation of molecular scientific achievements. It was Bennett that greenlit the Million Mito project. Bennett’s challenge as a genetic genealogy/business owner was to advance the science that led to products while making enough money to be able to continue advancing the science. It was a fine line, but Max and Bennett navigated those waters quite well.

Apparently, Max, Bennett, and the FamilyTreeDNA customers weren’t the only people who believe that.

In January 2021, myDNA acquired and merged with FamilyTreeDNA. Max and Bennett remain involved as board members.

Dr.Lior Rauchberger, CEO of myDNA which includes FamilyTreeDNA

Dr. Lior Rauchberger, the CEO of the merged enterprise believes in the power of genetics, including genetic genealogy, and is continuing to make investments in FamilyTreeDNA products – including new features. There have already been improvements in 2021 and in the presentation by Katy Rowe, the Product Manager for the FamilyTreeDNA products, she explains what is coming this year.

I hope you enjoyed this retrospective on the past 22 years and are looking forward to crossing new frontiers, and breaking down those brick walls, in the coming decades.

Sneak Peek at FamilyTreeDNA – New Features and Upcoming Releases

You can watch Katy Rowe’s Sneak Peek video about what’s coming, here.

Of course, while other companies need to split their focus between traditional genealogy research records and DNA, FamilyTreeDNA does not. Their only focus is genetics. They plan to make advances in every aspect of their products.

FamilyTreeDNA announced a new Help Center which you can access, here. I found lots of short videos and other helpful items. I had no idea it existed.

In 2021, customers began being able to order a combined Family Finder and myDNA test to provide insights into genealogy along with health and wellness

Wellness includes nutrition and fitness insights.

Existing customers either are or will be able to order the myDNA upgrade to their existing test. The ability to upgrade is being rolled out by groups. I haven’t had my turn yet, but when I do, I’ll test and let you know what I think. Trust me, I’m not terribly interested in how many squats I can do anymore, because I already know that number is zero, but I am very interested in nutrition and diet. I’d like to stay healthy enough to research my ancestors for a long time to come.

FamilyTreeDNA announced that over 72,000 men have taken the Big Y test which has resulted in the Y DNA tree of mankind surpassing 50,000 branches.

This is utterly amazing when you consider how far we’ve come since 2002. This also means that a very high number of men, paired with at least one other man, actually form a new branch on the Y haplotree.

The “age” of tester’s Y DNA haplogroups is now often within the 500-year range – clearly genealogical in nature. Furthermore, many leaf-tip haplogroups as defined by the Big Y SNPs are much closer than that and can differentiate between branches of a known family. The Big Y-700 is now the go-to test for Y DNA and genealogy.

Of course, all these new branches necessitate new maps and haplogroup information. These will be released shortly and will provide users with the ability to see the paths together, which is the view you see here, or track individual lines. The same is true for mitochondrial DNA as well.

Y DNA tree branch ages will be forthcoming soon too. I think this is the #1 most requested feature.

On the Mitochondrial DNA side of the house, the Million Mito project has led to a significant rewrite of the MitoTree. As you know, I’m a Million Mito team member.

Here’s Dr. Paul Maier’s branch, for example. You can see that in the current version of the Phylotree, there is one blue branch and lots of “child” branches beneath that. Of course, when we’re measuring the tree from “Eve,” the end tip leaf branches look small, but it’s there that our genealogy resides.

In the new version, yet to be released, there is much more granularity in the branches of U5a2b2a.

To put this another way, in today’s tree, haplogroup U5a2b2a is about 5,000 years old, but the newly defined branches bring the formation of Paul’s (new) haplogroup into the range of about 500 years. Similar in nature to the Y DNA tree and significantly more useful for genealogical purposes. If you have not taken a mitochondrial DNA full sequence test, please order one now. Maybe your DNA will help define a new branch on the tree plus reveal new information about your genealogy.

Stay tuned on this one. You know the Million Mito Project is near and dear to my heart.

2022 will also see much-needed improvements in the tree structure and user experience, as well as the matches pages.

There are a lot of exciting things on FamilyTreeDNA’s plate and I’m excited to see these new features and functions roll out over the next few months.

Just the Beginning

The three days of RootsTech 2022 may be over, but the content isn’t.

In fact, it’s just the beginning of being able to access valuable information at your convenience. The vendor booths will remain in the Expo Hall until RootsTech 2023, so for a full year, plus the individual instructor’s sessions will remain available for three years.

In a few days, after I take a break, I’ll publish a full list of DNA sessions, along with links for your convenience.

Thank You Shout Outs

I want to say a HUGE thank you to RootsTech for hosting the conference and making it free. I specifically want to express my gratitude to the many, many people working diligently behind the scenes during the last year, and frantically during the past three days.

Another huge thank you to the speakers and vendors whose efforts provide the content for the conference.

And special thanks to you for loving genealogy, taking your time to watch and learn, and for reading this blog.

_____________________________________________________________

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STRs and SNPs – Are STR Markers Still Useful for Y DNA?

Some time back, I wrote an article titled, STRs vs SNPs, Multiple DNA Personalities, which you can read, here. In that article, I explained the difference between STR and SNP markers.

Y DNA is extremely useful for men to track their direct paternal line via the Y chromosome that they inherited from their father. You can see how various types of DNA are inherited, here. By way of comparison, mitochondrial DNA (red) is inherited from your matrilineal line, and autosomal DNA (green) is inherited from all lines.

The Y chromosome, shown in blue above, is passed from father to son without mixing with the DNA of the mother, so it is in essence tracked intact for generations – with the exception of occasional mutations.

Two kinds of mutations make Y DNA genealogically useful. They are STRs, short tandem repeat markers and SNPs, single nucleotide polymorphisms, pronounced as “snips.” If you’re looking for in-depth information about Y DNA, I have provided a Y DNA resource guide here.

How is Y DNA Useful?

For Estes males, we have identified several genetic lineages using these markers that show us where testers fit into the tree of Estes males, which of course in turn fits into the larger tree of mankind.

In some cases, Y DNA is the only clue people have as to their genealogy. In other situations, these tests confirm and further refine both the genetic tree and genealogy.

Let’s look at how these two types of Y DNA markers work, separately and together at FamilyTreeDNA.

STR Markers, Results and Matching

Y DNA STR results are returned in panels when men take Y DNA tests.

Every man who takes a Y DNA test at FamilyTreeDNA receives STR results, shown above. How many marker results he receives depends on the level of the test he orders. In the past, 12, 25, 37, 67 and 111 marker tests were available to purchase individually. Men could also upgrade to higher level tests. 500 and 700 STR marker results are only available when the Big Y test has been purchased.

Today, men can order the entry level 37 Y DNA test or a 111 marker test individually. However, a minimum of 700 STR markers are included in the Big Y-700 test, in addition to SNP results, which we will talk about in a minute.

Matching is Key

However, the benefit isn’t in the STR markers themselves, but in matching to other men. The markers are just the tool used – but the more information you have, the better the result.

STR results are used to match all Y DNA testers against each other. Matches are shown at each marker level.

My Estes male cousin has tested at the Big Y 700 level. He is matched against all other men who have taken a Y DNA test. He can see who he matches at 12 through 111 markers separately. For each man that he matches, if they have taken the Big Y test, he can see how closely he matches at the 500 or 700 marker level too.

This Estes match to my Estes cousin, shown above, has tested at 111 markers, but has not taken the Big Y test, so he has no STR markers above 111. He mismatches my cousin with 1 STR marker difference at 111 markers. That’s pretty close.

Additionally, we can see that the match’s haplogroup has been estimated as R-M269 based on STR results. For a more specific haplogroup, either individual SNP markers must be tested, or an upgrade to the Big Y-700 test can be ordered. I don’t recommend individual SNP marker testing anymore because the Big Y gives you so much more for your money by scanning for all Y DNA mutations.

Big Y-700 and SNPs

The only way to obtain the most detailed Y DNA haplogroup is to take a Big Y test. The Big Y test scans the Y chromosome to search for SNP mutations. The Big Y test doesn’t test any one specific location, like STRs or individual SNP tests, but scans for all mutations – currently known and previously unknown. That’s the beauty. You don’t have to tell it what to look for. The Big Y test scans and looks for everything useful.

More than 200,000 men in the FamilyTreeDNA database have been SNP tested and more than 450,000 variants, or mutations, have been found in Big Y tests. The database grows every single day. Sometimes DNA matching is a waiting game, with your DNA available for matching 24X7. When your DNA is working for you, you just never know when that critical match will be forthcoming.

The Big Y test keeps giving over time, because new variants (mutations) are discovered and eventually named as haplogroups. Many new haplogroups are based on what can best be called family line mutations.

Initially, SNP results and haplogroups were so far up the tree that often, they weren’t genealogically relevant, but that’s NOT the case anymore.

Today, SNP results from the Big Y-700 test are sometimes MORE relevant and dependable than STR results.

Each man receives a very refined personal haplogroup, known colloquially as their terminal SNP, often FAR down the tree from the estimated haplogroup provided with STR testing alone.

After Big Y testing, my cousin is now haplogroup R-ZS3700 instead of R-M269. R-M269 was accurate as far as it went, but only the Big Y test can provide this level of detail which is quite useful.

The Block Tree Divides Lines for You

The Block Tree is provided for all Big Y testers.

Looking at the Block Tree for my cousin, you can see that he and several other primarily Estes men either share the same haplogroup or parent/child haplogroups.

My cousin in R-ZS3700, while R-BY490 is the parent haplogroup of R-ZS3700, and R-BY154784 is a child haplogroup of R-ZS3700.

R-M269 is more than 15 haplogroup branches upstream of my cousin’s R-ZS3700.

You can also easily see that Estes men fall onto different “twigs” of the tree, and those twigs are very genealogically significant. Each column above is a twig, representing a distinct genealogical lineage. Taking the Big Y test separates men into their ancestral branches which can be genealogically associated with specific men.

My cousin is R-ZS3700, along with one other man. Two more men form R-BY154784, a subgroup of R-ZS3700, which means they descend from a specific man who descends from Moses Estes. All of these men descend from R-BY490 and all of those men descend from R-BY482, the parent of R-BY490, as shown on the public haplotree, here.

Men who take the Big Y test ALSO receive separate SNP matching – meaning they have BOTH STR and SNP matching which provides testers with two separate tools to use.

Of course, the only men who will be shown as SNP matches are the men who have taken the Big Y test.

Ok, how is this information useful?

Project View

Looking at the Estes DNA project, you can see that two men who have joined the project carry haplogroup R-ZS3700. Several others descend from that same genealogical line according to their paper trail, and STR matches, but have not taken the Big Y-700 test.

As the project administrator, I’ve grouped these men by their known ancestor, and then, in some cases, I’ve used their terminal SNP to further group them. For example, one man, kit 491887, doesn’t know which Estes line he descends from, but I can confidently group him in Estes Group 4 based on his haplogroup of R-ZS3700.

I can also use STR matching and autosomal matching to further refine his match group if needed for the project. But guaranteed, he’ll need to use both of those additional tools to figure out who his Estes ancestors are.

He was absolutely thrilled to be grouped under Moses Estes, because at least now he has something to work his paper trail backwards towards.

Test Summary

Men who take STR tests alone, meaning 12-111 only, receive STR matching and an estimated haplogroup.

Men who take the Big Y test receive STR results and matches, PLUS the most refined haplogroup possible, many additional STR markers, separate SNP matches and block tree placement.

STR 12-111 Tests Only Big Y-700 Test
STR markers through 111 Yes, depending on test level purchased Yes
STR marker matching with other men Yes Yes
STR markers from 112-700 Only if the tester purchases a Big Y upgrade Yes
Estimated haplogroup Yes Haplogroup is fully tested, not estimated
Tested, most refined haplogroup Not without an upgrade to the Big Y-700 test Yes
SNP Matching No Yes
Block Tree No Yes

Genealogy

Recently, someone asked me how to use these tools separately and together. That’s a great question.

First, if there is a data conflict, SNP results are much more stable than STRs. STRs mutate much more often and sometimes back mutate to the original value which in essence looks like a mutation never happened. Furthermore, sometimes STR markers mutate to the same value independently, meaning that two men share the same mutation – making it look like they descend from the same line – but they don’t.

Before the Big Y tests were available, the only Y DNA tools we had were STR matches and individual SNP mutations. From time to time, one of the STR markers would mutate back to the original value which caused me, as a project administrator, to conclude that men without that specific line-marker mutation were not descended from that line, when in fact, that man’s line had experienced a back-mutation.

How do I know that? When the men involved both took the Big Y-700 test, they have a lineage defining haplogroup that proved that there had been a back-mutation in the STR data and the men in question were in fact from the line originally thought.

Thank goodness for the Big Y test.

STRs and SNPs Working in Tandem

Click any image to enlarge

Looking at the Estes project again, the R-ZS3700 SNP defines the Moses Estes (born 1711) line, a son of the immigrant, Abraham Estes. The men grouped together above are descendants of Moses’s great-grandson. You can see that if I were to use STR markers alone, I would have divided this group into two based on the values of the two bottom kits. However, both genealogy and SNP/haplogroups prove that indeed, the genealogy is accurate.

STR markers alone are inconclusive at best and potentially deceptive if we used only those markers without additional information.

However, we don’t always have the luxury of upgrading every man to the right and Big Y-700 test. Some testers are deceased, some don’t have enough DNA left and cannot submit a new swab, and some simply aren’t interesting.

When we don’t have the more refined Big Y test, the STR markers and matches are certainly valuable.

Furthermore, STR markers can sometimes provide lineages WITHIN haplogroups.

For example, let’s say that in the example above the two men at the bottom were a distinct line of men descended from one specific descendant of Moses Estes. If that were the case, then the STR markers would be very valuable within the R-ZS3700 haplogroup. Maybe I need to reevaluate their genealogy and see if there are any new clues available now that were not available before.

STRs Within Match Groups

Using a different example, I can’t group these Estes men any more closely based on their genealogy or SNP results.

Only two men in this group have taken a Big Y test – those with haplogroup R-BY490. Unfortunately, this haplogroup only confirms that these men descend from the Estes lineage that immigrated to America and that they are NOT from the Moses Estes line. That’s useful, but not enough.

Two other men have taken individual SNP tests, R-DF49 and R-L21 which are not useful in this context. They don’t reach far enough down the tree.

We need more information. Fortunately, we have some.

We have two clusters of STR markers. We can see that three men have a purple grouping of 24 at marker DYS390 (the header with STR marker names is not shown in the screen shot) and a grouping of men that share a mutation of 12 at marker DYS391.

It’s likely, but not a given, that the men clustered together at the bottom with the 12 value descend from the same Estes male common ancestor. The men at the top with a value of both 12 and 24 could belong to that same cluster, with an additional small cluster of 24 further delineating their ancestor – OR – the mutation to 12 at location DYS391 could have arisen independently in two separate lines.

It’s also possible that back-mutations have occurred in some of the other men. We just don’t know.

If I were to advise these men, I’d strongly suggest that they all upgrade to the Big Y-700 with the hope that at least some of them would have SNPs that define existing or new haplogroups that would positively sort their lines.

Then, within those haplogroup groups, I’d focus on STR groupings, genealogy and possibly, autosomal results.

Evaluate All Three, Separately and Together

We have three separate tools (plus autosomal) that need to be considered together as well as separately.

  1. The first, of course, is known genealogy. However, Y DNA testing works well even without genealogy.
  2. Big Y haplogroup information combined with the block tree should be evaluated to define genetic lineages.
  3. STR groupings need to be evaluated separately from and within haplogroups and allow us to add people to the SNP-defined groups of testers. Known genealogy is important when using STR markers.

As a bonus, if the men have also taken the Family Finder test, some men may match each other autosomally as well as Y DNA, if the connection is close enough in time. Of course, Y DNA matches reach much further back in time than autosomal matching because Y DNA is never divided or combined with any DNA from the other parent.

Confirm or Refute

Genealogy can be either confirmed or refuted by either STR or SNP tests, independently or together.

Looking again at the public Estes DNA project, you can see that the first person in that group provided his genealogy as descending from the same Moses Estes line as the other men. However, the STR mutations clearly show that indeed, his genealogy is incorrect for some reason. He does not match any of the other men descended from Moses’s grandson or the rest of the Estes lineage.

This man’s haplogroup is estimated as R-M269, but were he to take the Big Y test, he would assuredly not be R-ZS3700. In fact, his STR markers match two men who have taken the Big Y-700 test and those two men share an entirely different haplogroup, not in the Estes or related branches at all. If this man were to take the Big Y-700 test, he would likely match that haplogroup.

Both STRs and SNPs can disprove a lineage relationship. As I mentioned earlier, of the two, SNPs are more reliable. Often SNPs are required to conclusively divide a group of men descended from a common ancestor.

STRs may or may not be useful, or correct, either without SNP-defined haplogroups, or within those haplogroups.

However, STRs, even alone, are a tool that should not be ignored, especially when we don’t have SNP data or it’s not conclusive.p

A Different View

To literally look at this a different way, I prepared a pedigree type Y DNA haplogroup spreadsheet for the Estes Project at WikiTree. I’ve divided the information by ancestor and included haplogroups. You can view that spreadsheet, here, and you can then compare the colored groups with the Estes DNA Project at FamilyTreeDNA which are grouped by ancestral line.

This is only a small portion of that pedigree showing the Moses lineage. The image is large, but you can see the entire spreadsheet (as of August 2020) here.

Of note, R-BY490 defines the entire Abraham Estes line (green above). Within that line, other SNP lineages have been defined, including R-ZS3700 and R-BY154784.

However, many lines have additional STR motifs that define or suggest associations with specific genealogical ancestral lines, as you can see in the Estes FamilyTreeDNA project, here. I’ve included only a snippet above.

Bottom Line

To answer the original question – yes you can and should use STR and SNP markers both separately and together. If you don’t have enough SNP data, use STR matches along with genealogy information and Family Finder results to augment what you do have.

The more Y DNA information you have in hand, the better prepared you are to analyze and utilize that information for genealogical purposes.

Do you have genealogical questions that Y DNA could potentially solve? What are they and can you find someone to test?

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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.

Thank you so much.

DNA Purchases and Free Uploads

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Haplogroup Matching: What It Does (and Doesn’t) Mean

“Our haplogroups (sort of) match, so that means we’re related, right?”

Well, maybe.

It depends.

Great Question

This is an oft-asked great question. Of course, the answer varies depending on the context of the question and what is meant by “related.” A haplogroup match may or may not be a valid match for genealogy. A “match” or a “not match” can mean different things.

The questions people often ask include:

  • Does a haplogroup have to match exactly in order for another person to either be considered a match to you?
  • If they don’t match exactly, can they still be considered as a possible match?
  • Conversely, can we rule someone out as a match on a specific genealogical line based on haplogroup alone?

These questions often arise in relation to DNA testing at Family Tree DNA, sometimes when people are trying to compare results to people who have haplogroup estimates, either at FamilyTreeDNA or from testing elsewhere.

In other words, if one person is haplogroup J and someone else is J1, either at the same vendor or at another, what does that tell us? This question pertains to both Y DNA and mitochondrial DNA tests no matter where you’ve tested.

Family Tree DNA offers different levels of Y DNA testing. Interpreting those match results can sometimes be confusing. The same is true for mitochondrial DNA, especially if your matches have not taken the full mitochondrial sequence (mtFull) test.

You might be comparing apples and oranges, or you might be comparing a whole orange (detailed test) with a few slices (haplogroup estimate.) How can you know, and how can you make sense of the results?

If you’re comparing a haplogroup between sources, such as a partial haplogroup determined by testing through a company like 23andMe or LivingDNA to complete tests taken at FamilyTreeDNA, the answer can be less than straightforward.

I discussed the difference between autosomal-based haplogroup assignments and actual testing of both Y DNA and mitochondrial DNA which result in haplogroup assignments, here. In a nutshell, both LivingDNA and 23andMe provide a high-level (base) haplogroup estimates based on a few specific probes when you purchase an autosomal test, but that’s not the same as deeper testing of the Y chromosome or mitochondrial DNA.

The answer to whether your haplogroup has to match is both “yes”, and “no.” Don’t you hate it when this happens?

Let’s look at different situations. But to begin with, there is at least one common answer.

Yes, Your Base Haplogroup Must Match

To even begin to look further for a common ancestor on either your Y DNA line (direct patrilineal) or direct mitochondrial matrilineal line (your mother’s mother’s mother’s line on up the tree), your base haplogroup much match.

In other words, you and your matches must all be in the same base haplogroup. Haplogroups are defined by the presence of specific combinations of mutations which are called SNPs (single nucleotide polymorphisms) in the Y DNA.

Click to enlarge images

All of these men on the Y DNA matches page are a branch of haplogroup R as shown under the Y-DNA Haplogroup column. There are more matches on down the page (not shown here) with more and different haplogroups. However, you’ll notice that all matches are a subset of haplogroup R, the base haplogroup.

The same is true for mitochondrial DNA haplogroups. You can see in this example that people who have not tested at the FMS (full mitochondrial sequence) level have a less specific haplogroup. The entire mitochondria must be tested in order to obtain a full haplogroup, such as J1c2f, as opposed to haplogroup J.

The Y DNA Terminal SNP Might Not Match

For Y DNA testers, when looking at your matches, even to close relatives, you may not have the same exact haplogroup because:

  • Some people may have tested at different levels
  • Some people in recent generations may have developed a SNP specific to their line.

In other words, haplogroups, testing level, and known genealogy all need to be considered, especially when the haplogroups are “close to each other” on the tree.

For Y DNA, FamilyTreeDNA:

  • Provides all testers with base haplogroup estimates based on STR tests, meaning 12-111 marker panels. These are very accurate estimates, but are also very high level.
  • Offers or has offered in the past both individual SNP tests and SNP packs or bundles that test individual SNPs indicating their presence or absence. This confirms a SNP or haplogroup, but only to that particular level.
  • Offers the Big Y-700 test, along with upgrades to previous Big Y test levels. There have been 3 versions of the Big Y test over time. The Big Y reads the entire gold standard region of the Y chromosome, reporting the known (named) SNP mutations customers do and don’t have. Additionally, the test reports any unnamed SNPs which are considered private variants until multiple men on the same branch of the Y DNA tree test with the same mutation. At that point, the mutation is named and becomes a haplogroup.

That’s why the answer is “no,” your haplogroup does not have to match exactly for you to actually be a match to each other.

A father and son could test, with one having an estimated haplogroup of R-M269 and the other taking the Big Y-700 resulting in a very different Terminal SNP, quite distant on the tree. Conversely, both men could take the Big Y and the son could have a different terminal SNP than the father because a mutation occurred between them. An autosomal DNA test would confirm that they are in fact, father and son.

However, a father and son who test and are placed in different base haplogroups – one in haplogroup I, and the other in haplogroup R, for example, has a very different situation. Their autosomal test would likely confirm that they are not father and son.

Having said this about paternity, especially if haplogroups are estimated and specific Y DNA SNP testing has not been done, don’t have a premature freak-out moment. Look at autosomal DNA, assuming you DO want to know. Y DNA alone should never be used to infer paternity without autosomal testing.

Let’s look at some examples.

Matches and Haplogroups

In the example shown above, you can see that several people have taken the Big Y test, so their SNP will be shown on further down the haplotree than those testers who have not. These are a leaf, not a branch.

You can see by looking at the Terminal SNP column, at far right, that people who have either taken the Big Y, or had any positive SNP test will have a value in the Terminal SNP column.

Anyone who has NOT taken the Big Y or taken a SNP test will have their base haplogroup estimated based on their STR tests. In this case, that estimate is R-M269. People with estimated haplogroups will not show anything in the Terminal SNP column.

It’s possible that if all of these men took the Big Y test that at least some would share the same Terminal SNP, and others might be closely related, only a branch or so different on the tree.

These men in this example are all descendants of Robert Estes born in England in 1555. All have Estes surnames, except for one man who is seeking the identity of his paternal line.

Let’s Look at the Tree

Our tester in the screenshot is haplogroup R-ZS3700 and matches men in the following haplogroups:

  • R-M269
  • R-L21
  • R-BY490
  • R-BY154784

There are a few additional haplogroups not shown because they are further down on his match list, so let’s just work with these for now.

After determining that these men are on the same branch of the Y tree, haplogroup R, the real question is how closely they are related and how close or far distant their terminal SNPs are located. More distance means the common ancestor is further back in time.

However, looks can be deceiving, especially if not everyone has tested to the same level.

The haplogroup furthest up in the tree, meaning the oldest, is R-M269, followed by the man who took the single SNP test for R-L21. Notice that R-M269 has more than 15,000 branches, so while this haplogroup could be used to rule out a match, R-M269 alone isn’t useful to determine genealogical matching.

There are a lot of branches between R-L21 and the next haplogroup on the tree.

Finally, here we go. Our tester is haplogroup R-ZS3700 that has one descendant branch. R-ZS3700 is a branch of R-BY490 that has 2 branches.

R-BY154784 is the last SNP on this branch of the tree. Our tester matches this man too.

Another way of viewing these matches is on the Block Tree provided for Big Y testers.

In this view, you can see that the Estes men all match back to about 18 “SNP generations” ago according to the legend at left, but they don’t match men further back in time who have taken the Big Y test.

Notice the up-arrow where haplogroups R-L21 and R-M269 are shown across the top of the display.

If you click on R-L21, you’ll see that that it appears about 61 SNP generations back in time.

Haplogroup R-M269 appears even further back in time, about 174 SNP generations.

The only reason you will match someone at either the R-L21 or R-M269 level is because you both descend from a common long-ago ancestral branch, hundreds to thousands of years in the past. You and they would both need to take either the Big Y-700 test for Y DNA, or the full sequence mitochondrial DNA test in order to determine your full haplogroup and see your list of matches based on those full sequences.

Public Trees

You can view FamilyTreeDNA‘s extensive public Y DNA tree by haplogroup, here.

You can view their public mitochondrial DNA tree by haplogroup, here.

And the Answer Is…

As you can see, there is no single answer to the question of haplogroup relationships. The answer is also partly defined by the context in which the question is asked.

  1. For two men to be “related” on the Y DNA patrilineal line, yes, minimally, the base haplogroup does have to match. Base haplogroups are defined by the leading letter, like “R” in the examples above.
  2. “Related” based on base haplogroup only can be hundreds or thousands of years back in time, but additional testing can resolve that question.
  3. “Related” can mean before the advent of surnames. However, a match to a man with the same surname suggests a common ancestor with that surname in the past several hundred years. That match could, however, be much closer in time.
  4. For two men to be closely related, assuming they have taken the same version of Big Y test, their haplogroup branches need to be fairly closely adjacent on the haplotree. FamilyTreeDNA will be introducing haplogroup aging soon, meaning SNP/haplogroup branch dates on their haplotree. At that time, the “distance” between men will be easier to understand.
  5. You can exclude a genealogical relationship on the direct paternal line if the two men involved have a different base haplogroup. This question often occurs when people are trying to understand if they “might match” with someone whose haplogroup has been estimated.
  6. This holds true as well for mitochondrial DNA haplogroups and matching.

And there you have it, six answers about what haplogroup matching does and does not mean.

The bottom line is that haplogroups can be a great starting point and you can sometimes eliminate people as potential matches.

However, to confirm genealogical matches, you’ll always need more granular testing that includes actual Y DNA or mitochondrial DNA matching based on marker mutation results, not just haplogroups.

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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 Products and Services

Genealogy Research

Books

Y DNA Resources and Repository

I’ve created a Y DNA resource page with the information in this article, here, as a permanent location where you can find Y DNA information in one place – including:

  • Step-by-step guides about how to utilize Y DNA for your genealogy
  • Educational articles and links to the latest webinars
  • Articles about the science behind Y DNA
  • Ancient DNA
  • Success stories

Please feel free to share this resource or any of the links to individual articles with friends, genealogy groups, or on social media.

If you haven’t already taken a Y DNA test, and you’re a male (only males have a Y chromosome,) you can order one here. If you also purchase the Family Finder, autosomal test, those results can be used to search together.

What is Y DNA?

Y DNA is passed directly from fathers to their sons, as illustrated by the blue arrow, above. Daughters do not inherit the Y chromosome. The Y chromosome is what makes males, male.

Every son receives a Y chromosome from his father, who received it from his father, and so forth, on up the direct patrilineal line.

Comparatively, mitochondrial DNA, the pink arrow, is received by both sexes of children from the mother through the direct matrilineal line.

Autosomal DNA, the green arrow, is a combination of randomly inherited DNA from many ancestors that is inherited by both sexes of children from both parents. This article explains a bit more.

Y DNA has Unique Properties

The Y chromosome is never admixed with DNA from the mother, so the Y chromosome that the son receives is identical to the father’s Y chromosome except for occasional minor mutations that take place every few generations.

This lack of mixture with the mother’s DNA plus the occasional mutation is what makes the Y chromosome similar enough to match against other men from the same ancestors for hundreds or thousands of years back in time, and different enough to be useful for genealogy. The mutations can be tracked within extended families.

In western cultures, the Y chromosome path of inheritance is usually the same as the surname, which means that the Y chromosome is uniquely positioned to identify the direct biological patrilineal lineage of males.

Two different types of Y DNA tests can be ordered that work together to refine Y DNA results and connect testers to other men with common ancestors.

FamilyTreeDNA provides STR tests with their 37, 67 and 111 marker test panels, and comprehensive STR plus SNP testing with their Big Y-700 test.

click to enlarge

STR markers are used for genealogy matching, while SNP markers work with STR markers to refine genealogy further, plus provide a detailed haplogroup.

Think of a haplogroup as a genetic clan that tells you which genetic family group you belong to – both today and historically, before the advent of surnames.

This article, What is a Haplogroup? explains the basic concept of how haplogroups are determined.

In addition to the Y DNA test itself, Family Tree DNA provides matching to other testers in their database plus a group of comprehensive tools, shown on the dashboard above, to help testers utilize their results to their fullest potential.

You can order or upgrade a Y DNA test, here. If you also purchase the Family Finder, autosomal test, those results can be used to search together.

Step-by-Step – Using Your Y DNA Results

Let’s take a look at all of the features, functions, and tools that are available on your FamilyTreeDNA personal page.

What do those words mean? Here you go!

Come along while I step through evaluating Big Y test results.

Big Y Testing and Results

Why would you want to take a Big Y test and how can it help you?

While the Big Y-500 has been superseded by the Big Y-700 test today, you will still be interested in some of the underlying technology. STR matching still works the same way.

The Big Y-500 provided more than 500 STR markers and the Big Y-700 provides more than 700 – both significantly more than the 111 panel. The only way to receive these additional markers is by purchasing the Big Y test.

I have to tell you – I was skeptical when the Big Y-700 was introduced as the next step above the Big Y-500. I almost didn’t upgrade any kits – but I’m so very glad that I did. I’m not skeptical anymore.

This Y DNA tree rocks. A new visual format with your matches listed on their branches. Take a look!

Educational Articles

I’ve been writing about DNA for years and have selected several articles that you may find useful.

What kinds of information are available if you take a Y DNA test, and how can you use it for genealogy?

What if your father isn’t available to take a DNA test? How can you determine who else to test that will reveal your father’s Y DNA information?

Family Tree DNA shows the difference in the number of mutations between two men as “genetic distance.” Learn what that means and how it’s figured in this article.

Of course, there were changes right after I published the original Genetic Distance article. The only guarantees in life are death, taxes, and that something will change immediately after you publish.

Sometimes when we take DNA tests, or others do, we discover the unexpected. That’s always a possibility. Here’s the story of my brother who wasn’t my biological brother. If you’d like to read more about Dave’s story, type “Dear Dave” into the search box on my blog. Read the articles in publication order, and not without a box of Kleenex.

Often, what surprise matches mean is that you need to dig further.

The words paternal and patrilineal aren’t the same thing. Paternal refers to the paternal half of your family, where patrilineal is the direct father to father line.

Just because you don’t have any surname matches doesn’t necessarily mean it’s because of what you’re thinking.

Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) aren’t the same thing and are used differently in genealogy.

Piecing together your ancestor’s Y DNA from descendants.

Haplogroups are something like our pedigree charts.

What does it mean when you have a zero for a marker value?

There’s more than one way to break down that brick wall. Here’s how I figured out which of 4 sons was my ancestor.

Just because you match the right line autosomally doesn’t mean it’s because you descend from the male child you think is your ancestor. Females gave their surnames to children born outside of a legal marriage which can lead to massive confusion. This is absolutely why you need to test the Y DNA of every single ancestral line.

When the direct patrilineal line isn’t the line you’re expecting.

You can now tell by looking at the flags on the haplotree where other people’s ancestral lines on your branch are from. This is especially useful if you’ve taken the Big Y test and can tell you if you’re hunting in the right location.

If you’re just now testing or tested in 2018 or after, you don’t need to read this article unless you’re interested in the improvements to the Big Y test over the years.

2019 was a banner year for discovery. 2020 was even more so, keeping up an amazing pace. I need to write a 2020 update article.

What is a terminal SNP? Hint – it’s not fatal😊

How the TIP calculator works and how to best interpret the results. Note that this tool is due for an update that incorporates more markers and SNP results too.

You can view the location of the Y DNA and mitochondrial DNA ancestors of people whose ethnicity you match.

Tools and Techniques

This free public tree is amazing, showing locations of each haplogroup and totals by haplogroup and country, including downstream branches.

Need to search for and find Y DNA candidates when you don’t know anyone from that line? Here’s how.

Yes, it’s still possible to resolve this issue using autosomal DNA. Non-matching Y DNA isn’t the end of the road, just a fork.

Science Meets Genealogy – Including Ancient DNA

Haplogroup C was an unexpected find in the Americas and reaches into South America.

Haplogroup C is found in several North American tribes.

Haplogroup C is found as far east as Nova Scotia.

Test by test, we made progress.

New testers, new branches. The research continues.

The discovery of haplogroup A00 was truly amazing when it occurred – the base of the phylotree in Africa.

The press release about the discovery of haplogroup A00.

In 2018, a living branch of A00 was discovered in Africa, and in 2020, an ancient DNA branch.

Did you know that haplogroups weren’t always known by their SNP names?

This brought the total of SNPs discovered by Family Tree DNA in mid-2018 to 153,000. I should contact the Research Center to see how many they have named at the end of 2020.

An academic paper split ancient haplogroup D, but then the phylogenetic research team at FamilyTreeDNA split it twice more! This might not sound exciting until you realize this redefines what we know about early man, in Africa and as he emerged from Africa.

Ancient DNA splits haplogroup P after analyzing the remains of two Jehai people from West Malaysia.

For years I doubted Kennewick Man’s DNA would ever be sequenced, but it finally was. Kennewick Man’s mitochondrial DNA haplogroup is X2a and his Y DNA was confirmed to Q-M3 in 2015.

Compare your own DNA to Vikings!

Twenty-seven Icelandic Viking skeletons tell a very interesting story.

Irish ancestors? Check your DNA and see if you match.

Ancestors from Hungary or Italy? Take a look. These remains have matches to people in various places throughout Europe.

The Y DNA story is no place near finished. Dr. Miguel Vilar, former Lead Scientist for National Geographic’s Genographic Project provides additional analysis and adds a theory.

Webinars

Y DNA Webinar at Legacy Family Tree Webinars – a 90-minute webinar for those who prefer watching to learn! It’s not free, but you can subscribe here.

Success Stories and Genealogy Discoveries

Almost everyone has their own Y DNA story of discovery. Because the Y DNA follows the surname line, Y DNA testing often helps push those lines back a generation, or two, or four. When STR markers fail to be enough, we can turn to the Big Y-700 test which provides SNP markers down to the very tip of the leaves in the Y DNA tree. Often, but not always, family-defining SNP branches will occur which are much more stable and reliable than STR mutations – although SNPs and STRs should be used together.

Methodologies to find ancestral lines to test, or maybe descendants who have already tested.

DNA testing reveals an unexpected mystery several hundred years old.

When I write each of my “52 Ancestor” stories, I include genetic information, for the ancestor and their descendants, when I can. Jacob was special because, in addition to being able to identify his autosomal DNA, his Y DNA matches the ancient DNA of the Yamnaya people. You can read about his Y DNA story in Jakob Lenz (1748-1821), Vinedresser.

Please feel free to add your success stories in the comments.

What About You?

You never know what you’re going to discover when you test your Y DNA. If you’re a female, you’ll need to find a male that descends from the line you want to test via all males to take the Y DNA test on your behalf. Of course, if you want to test your father’s line, your father, or a brother through that father, or your uncle, your father’s brother, would be good candidates.

What will you be able to discover? Who will the earliest known ancestor with that same surname be among your matches? Will you be able to break down a long-standing brick wall? You’ll never know if you don’t test.

You can click here to upgrade an existing test or order a Y DNA test.

Share the Love

You can always forward these articles to friends or share by posting links on social media. Who do you know that might be interested?

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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 Products and Services

Genealogy Research

Books

Free Y DNA Webinar at Legacy Family Tree Webinars

I just finished recording a new, updated Y DNA webinar, “Wringing Every Drop out of Y DNA” for Legacy Family Tree Webinars and it’s available for viewing now.

This webinar is packed full of information about Y DNA testing. We discuss the difference between STR markers, SNPs and the Big Y test. Of course, the goal is to use these tests in the most advantageous way for genealogy, so I walk you through each step. There’s so much available that sometimes people miss critical pieces!

FamilyTreeDNA provides a wide variety of tools for each tester in addition to advanced matching which combines Y DNA along with the Family Finder autosomal test. Seeing who you match on both tests can help identify your most recent common ancestor! You can order or upgrade to either or both tests, here.

During this 90 minute webinar, I covered several topics.

There’s also a syllabus that includes additional resources.

At the end, I summarized all the information and show you what I’ve done with my own tree, illustrating how useful this type of testing can be, even for women.

No, women can’t test directly, but we can certainly recruit appropriate men for each line or utilize projects to see if our lines have already tested. I provide tips and hints about how to successfully accomplish that too.

Free for a Limited Time

Who doesn’t love FREE???

The “Squeezing Every Drop out of Y DNA” webinar is free to watch right now, and will remain free through Wednesday, October 14, 2020. On the main Legacy Family Tree Webinar page, here, just scroll down to the “Webinar Library – New” area to see everything that’s new and free.

If you’re a Legacy Farmily Tree Webinar member, all webinars are included with your membership, of course. I love the great selection of topics, with more webinars being added by people you know every week. This is the perfect time to sign up, with fall having arrived in all its golden glory and people spending more time at home right now.

More than 4000 viewers have enjoyed this webinar since yesterday, and I think you will too. Let’s hope lots of people order Y DNA tests so everyone has more matches! You just never know who’s going to be the right match to break down those brick walls or extend your line back a few generations or across the pond, perhaps.

You can view this webinar after October 14th as part of a $49.95 annual membership. If you’d like to join, click here and use the discount code ydna10 through October 13th.

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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 Products and Services

Genealogy Research

Concepts: Inheritance

Inheritance.

What is it?

How does it work?

I’m not talking about possessions – but about the DNA that you receive from your parents, and their parents.

The reason that genetic genealogy works is because of inheritance. You inherit DNA from your parents in a known and predictable fashion.

Fortunately, we have more than one kind of DNA to use for genealogy.

Types of DNA

Females have 3 types of DNA and males have 4. These different types of DNA are inherited in various ways and serve different genealogical purposes.

Males Females
Y DNA Yes No
Mitochondrial DNA Yes Yes
Autosomal DNA Yes Yes
X Chromosome Yes, their mother’s only Yes, from both parents

Different Inheritance Paths

Different types of DNA are inherited from different ancestors, down different ancestral paths.

Inheritance Paths

The inheritance path for Y DNA is father to son and is inherited by the brother, in this example, from his direct male ancestors shown by the blue arrow. The sister does not have a Y chromosome.

The inheritance path for the red mitochondrial DNA for both the brother and sister is from the direct matrilineal ancestors, only, shown by the red arrow.

Autosomal DNA is inherited from all ancestral lines on both the father’s and mother’s side of your tree, as illustrated by the broken green arrow.

The X chromosome has a slightly different inheritance path, depending on whether you are a male or female.

Let’s take a look at each type of inheritance, how it works, along with when and where it’s useful for genealogy.

Autosomal DNA

Autosomal DNA testing is the most common. It’s the DNA that you inherit from both of your parents through all ancestral lines back in time several generations. Autosomal DNA results in matches at the major testing companies such as FamilyTreeDNA, MyHeritage, Ancestry, and 23andMe where testers view trees or other hints, hoping to determine a common ancestor.

How does autosomal DNA work?

22 autosomes

Every person has two each of 22 chromosomes, shown above, meaning one copy is contributed by your mother and one copy by your father. Paired together, they form the two-sided shape we are familiar with.

For each pair of chromosomes, you receive one from your father, shown with a blue arrow under chromosome 1, and one from your mother, shown in red. In you, these are randomly combined, so you can’t readily tell which piece comes from which parent. Therein lies the challenge for genealogy.

This inheritance pattern is the same for all chromosomes, except for the 23rd pair of chromosomes, at bottom right, which determined the sex of the child.

The 23rd chromosome pair is inherited differently for males and females. One copy is the Y chromosome, shown in blue, and one copy is the X, shown in red. If you receive a Y chromosome from your father, you’re a male. If you receive an X from your father, you’re a female.

Autosomal Inheritance

First, let’s talk about how chromosomes 1-22 are inherited, omitting chromosome 23, beginning with grandparents.

Inheritance son daughter

Every person inherits precisely half of each of their parents’ autosomal DNA. For example, you will receive one copy of your mother’s chromosome 1. Your mother’s chromosome 1 is a combination of her mother’s and father’s chromosome 1. Therefore, you’ll receive ABOUT 25% of each of your grandparents’ chromosome 1.

Inheritance son daughter difference

In reality, you will probably receive a different amount of your grandparent’s DNA, not exactly 25%, because your mother or father will probably contribute slightly more (or less) of the DNA of one of their parents than the other to their offspring.

Which pieces of DNA you inherit from your parents is random, and we don’t know how the human body selects which portions are and are not inherited, other than we know that large pieces are inherited together.

Therefore, the son and daughter won’t inherit the exact same segments of the grandparents’ DNA. They will likely share some of the same segments, but not all the same segments.

Inheritance maternal autosomalYou’ll notice that each parent carries more of each color DNA than they pass on to their own children, so different children receive different pieces of their parents’ DNA, and varying percentages of their grandparents’ DNA.

I wrote about a 4 Generation Inheritance Study, here.

Perspective

Keep in mind that you will only inherit half of the DNA that each of your parents carries.

Looking at a chromosome browser, you match your parents on all of YOUR chromosomes.

Inheritance parental autosomal

For example, this is me compared to my father. I match my father on either his mother’s side, or his father’s side, on every single location on MY chromosomes. But I don’t match ALL of my father’s DNA, because I only received half of what he has.

From your parents’ perspective, you only have half of their DNA.

Let’s look at an illustration.

Inheritance mom dad

Here is an example of one of your father’s pairs of chromosomes 1-22. It doesn’t matter which chromosome, the concepts are the same.

He inherited the blue chromosome from his father and the pink chromosome from his mother.

Your father contributed half of his DNA to you, but that half is comprised of part of his father’s chromosome, and part of his mother’s chromosome, randomly selected in chunks referred to as segments.

Inheritance mom dad segments

Your father’s chromosomes are shown in the upper portion of the graphic, and your chromosome that you inherited from you father is shown below.

On your copy of your father’s chromosome, I’ve darkened the dark blue and dark pink segments that you inherited from him. You did not receive the light blue and light pink segments. Those segments of DNA are lost to your line, but one of your siblings might have inherited some of those pieces.

Inheritance mom dad both segments

Now, I’ve added the DNA that you inherited from your Mom into the mixture. You can see that you inherited the dark green from your Mom’s father and the dark peach from your Mom’s mother.

Inheritance grandparents dna

These colored segments reflect the DNA that you inherited from your 4 grandparents on this chromosome.

I often see questions from people wondering how they match someone from their mother’s side and someone else from their father’s side – on the same segment.

Understanding that you have a copy of the same chromosome from your mother and one from your father clearly shows how this happens.

Inheritance match 1 2

You carry a chromosome from each parent, so you will match different people on the same segment. One match is to the chromosome copy from Mom, and one match is to Dad’s DNA.

Inheritance 4 gen

Here is the full 4 generation inheritance showing Match 1 matching a segment from your Dad’s father and Match 2 matching a segment from your Mom’s father.

Your Parents Will Have More Matches Than You Do

From your parents’ perspective, you will only match (roughly) half of the DNA with other people that they will match. On your Dad’s side, on segment 1, you won’t match anyone pink because you didn’t inherit your paternal grandmother’s copy of segment 1, nor did you inherit your maternal grandmother’s segment 1 either. However, your parents will each have matches on those segments of DNA that you didn’t inherit from them.

From your perspective, one or the other of your parents will match ALL of the people you match – just like we see in Match 1 and Match 2.

Matching you plus either of your parents, on the same segment, is exactly how we determine whether a match is valid, meaning identical by descent, or invalid, meaning identical by chance. I wrote about that in the article, Concepts: Identical by…Descent, State, Population and Chance.

Inheritance on chromosomes 1-22 works in this fashion. So does the X chromosome, fundamentally, but the X chromosome has a unique inheritance pattern.

X Chromosome

The X chromosome is inherited differently for males as compared to females. This is because the 23rd pair of chromosomes determines a child’s sex.

If the child is a female, the child inherits an X from both parents. Inheritance works the same way as chromosomes 1-22, conceptually, but the inheritance path on her father’s side is different.

If the child is a male, the father contributes a Y chromosome, but no X, so the only X chromosome a male has is his mother’s X chromosome.

Males inherit X chromosomes differently than females, so a valid X match can only descend from certain ancestors on your tree.

inheritance x fan

This is my fan chart showing the X chromosome inheritance path, generated by using Charting Companion. My father’s paternal side of his chart is entirely blank – because he only received his X chromosome from his mother.

You’ll notice that the X chromosome can only descend from any male though his mother – the effect being a sort of checkerboard inheritance pattern. Only the pink and blue people potentially contributed all or portions of X chromosomes to me.

This can actually be very useful for genealogy, because several potential ancestors are immediately eliminated. I cannot have any X chromosome segment from the white boxes with no color.

The X Chromsome in Action

Here’s an X example of how inheritance works.

Inheritance X

The son inherits his entire X chromosome from his mother. She may give him all of her father’s or mother’s X, or parts of both. It’s not uncommon to find an entire X chromosome inherited. The son inherits no X from his father, because he inherits the Y chromosome instead.

Inheritance X daughter

The daughter inherits her father’s X chromosome, which is the identical X chromosome that her father inherited from his mother. The father doesn’t have any other X to contribute to his daughter, so like her father, she inherits no portion of an X chromosome from her paternal grandfather.

The daughter also received segments of her mother’s X that her mother inherited maternally and paternally. As with the son, the daughter can receive an entire X chromosome from either her maternal grandmother or maternal grandfather.

This next illustration ONLY pertains to chromosome 23, the X and Y chromosomes.

Inheritance x y

You can see in this combined graphic that the Y is only inherited by sons from one direct line, and the father’s X is only inherited by his daughter.

X chromosome results are included with autosomal results at both Family Tree DNA and 23andMe, but are not provided at MyHeritage. Ancestry, unfortunately, does not provide segment information of any kind, for the X or chromosomes 1-22. You can, however, transfer the DNA files to Family Tree DNA where you can view your X matches.

Note that X matches need to be larger than regular autosomal matches to be equally as useful due to lower SNP density. I use 10-15 cM as a minimum threshold for consideration, equivalent to about 7 cM for autosomal matches. In other words, roughly double the rule of thumb for segment size matching validity.

Autosomal Education

My blog is full of autosomal educational articles and is fully keyword searchable, but here are two introductory articles that include information from the four major vendors:

When to Purchase Autosomal DNA Tests

Literally, anytime you want to work on genealogy to connect with cousins, prove ancestors or break through brick walls.

  • Purchase tests for yourself and your siblings if both parents aren’t living
  • Purchase tests for both parents
  • Purchase tests for all grandparents
  • Purchase tests for siblings of your parents or your grandparents – they have DNA your parents (and you) didn’t inherit
  • Test all older generation family members
  • If the family member is deceased, test their offspring
  • Purchase tests for estimates of your ethnicity or ancestral origins

Y DNA

Y DNA is only inherited by males from males. The Y chromosome is what makes a male, male. Men inherit the Y chromosome intact from their father, with no contribution from the mother or any female, which is why men’s Y DNA matches that of their father and is not diluted in each generation.

Inheritance y mtdna

If there are no adoptions in the line, known or otherwise, the Y DNA will match men from the same Y DNA line with only small differences for many generations. Eventually, small changes known as mutations accrue. After many accumulated mutations taking several hundred years, men no longer match on special markers called Short Tandem Repeats (STR). STR markers generally match within the past 500-800 years, but further back in time, they accrue too many mutations to be considered a genealogical-era match.

Family Tree DNA sells this test in 67 and 111 marker panels, along with a product called the Big Y-700.

The Big Y-700 is the best-of-class of Y DNA tests and includes at least 700 STR markers along with SNPs which are also useful genealogically plus reach further back in time to create a more complete picture.

The Big Y-700 test scans the entire useful portion of the Y chromosome, about 15 million base pairs, as compared to 67 or 111 STR locations.

67 and 111 Marker Panel Customers Receive:

  • STR marker matches
  • Haplogroup estimate
  • Ancestral Origins
  • Matches Map showing locations of the earliest known ancestors of matches
  • Haplogroup Origins
  • Migration Maps
  • STR marker results
  • Haplotree and SNPs
  • SNP map

Y, mitochondrial and autosomal DNA customers all receive options for Advanced Matching.

Big Y-700 customers receive, in addition to the above:

  • All of the SNP markers in the known phylotree shown publicly, here
  • A refined, definitive haplogroup
  • Their place on the Block Tree, along with their matches
  • New or unknown private SNPs that might lead to a new haplogroup, or genetic clan, assignment
  • 700+ STR markers
  • Matching on both the STR markers and SNP markers, separately

Y DNA Education

I wrote several articles about understanding and using Y DNA:

When to Purchase Y DNA Tests

The Y DNA test is for males who wish to learn more about their paternal line and match against other men to determine or verify their genealogical lineage.

Women cannot test directly, but they can purchase the Y DNA test for men such as fathers, brothers, and uncles.

If you are purchasing for someone else, I recommend purchasing the Big Y-700 initially.

Why purchase the Big Y-700, when you can purchase a lower level test for less money? Because if you ever want to upgrade, and you likely will, you have to contact the tester and obtain their permission to upgrade their test. They may be ill, disinterested, or deceased, and you may not be able to upgrade their test at that time, so strike while the iron is hot.

The Big Y-700 provides testers, by far, the most Y DNA data to work (and fish) with.

Mitochondrial DNA

Inheritance mito

Mitochondrial DNA is passed from mothers to both sexes of their children, but only females pass it on.

In your tree, you and your siblings all inherit your mother’s mitochondrial DNA. She inherited it from her mother, and your grandmother from her mother, and so forth.

Mitochondrial DNA testers at FamilyTreeDNA receive:

  • A definitive haplogroup, thought of as a genetic clan
  • Matching
  • Matches Map showing locations of the earliest know ancestors of matches
  • Personalized mtDNA Journey video
  • Mutations
  • Haplogroup origins
  • Ancestral origins
  • Migration maps
  • Advanced matching

Of course, Y, mitochondrial and autosomal DNA testers can join various projects.

Mitochondrial DNA Education

I created a Mitochondrial DNA page with a comprehensive list of educational articles and resources.

When to Purchase Mitochondrial DNA Tests

Mitochondrial DNA can be valuable in terms of matching as well as breaking down brick walls for women ancestors with no surnames. You can also use targeted testing to prove, or disprove, relationship theories.

Furthermore, your mitochondrial DNA haplogroup, like Y DNA haplogroups, provides information about where your ancestors came from by identifying the part of the world where they have the most matches.

You’ll want to purchase the mtFull sequence test provided by Family Tree DNA. Earlier tests, such as the mtPlus, can be upgraded. The full sequence test tests all 16,569 locations on the mitochondria and provides testers with the highest level matching as well as their most refined haplogroup.

The full sequence test is only sold by Family Tree DNA and provides matching along with various tools. You’ll also be contributing to science by building the mitochondrial haplotree of womankind through the Million Mito Project.

Combined Resources for Genealogists

You may need to reach out to family members to obtain Y and mitochondrial DNA for your various genealogical lines.

For example, the daughter in the tree below, a genealogist, can personally take an autosomal test along with a mitochondrial test for her matrilineal line, but she cannot test for Y DNA, nor can she obtain her paternal grandmother’s mitochondrial DNA directly by testing herself.

Hearts represent mitochondrial DNA, and stars, Y DNA.

Inheritance combined

However, our genealogist’s brother, father or grandfather can test for her father’s (blue star) Y DNA.

Her father or any of his siblings can test for her paternal grandmother’s (hot pink heart) mitochondrial DNA, which provides information not available from any other tester in this tree, except for the paternal grandmother herself.

Our genealogist’s paternal grandfather, and his siblings, can test for his mother’s (yellow heart) mitochondrial DNA.

Our genealogist’s maternal grandfather can test for his (green star) Y DNA and (red heart) mitochondrial DNA.

And of course, it goes without saying that every single generation upstream of the daughter, our genealogist, should all take autosomal DNA tests.

So, with several candidates, who can and should test for what?

Person Y DNA Mitochondrial Autosomal
Daughter No Y – can’t test Yes, her pink mother’s Yes – Test
Son Yes – blue Y Yes, his pink mother’s Yes – Test
Father Yes – blue Y Yes – his magenta mother’s Yes – Test
Paternal Grandfather Yes – blue Y – Best to Test Yes, his yellow mother’s – Test Yes – Test
Mother No Y – can’t test Yes, her pink mother’s Yes – Test
Maternal Grandmother No Y – can’t test Yes, her pink mother’s – Best to Test Yes – Test
Maternal Grandfather Yes – green Y – Test Yes, his red mother’s – Test Yes – Test

The best person/people to test for each of the various lines and types of DNA is shown bolded above…assuming that all people are living. Of course, if they aren’t, then test anyone else in the tree who carries that particular DNA – and don’t forget to consider aunts and uncles, or their children, as candidates.

If one person takes the Y and/or mitochondrial DNA test to represent a specific line, you don’t need another person to take the same test for that line. The only possible exception would be to confirm a specific Y DNA result matches a lineage as expected.

Looking at our three-generation example, you’ll be able to obtain a total of two Y DNA lines, three mitochondrial DNA lines, and 8 autosomal results, helping you to understand and piece together your family line.

You might ask, given that the parents and grandparents have all autosomally tested in this example, if our genealogist really needs to test her brother, and the answer is probably not – at least not today.

However, in cases like this, I do test the sibling, simply because I can learn and it may encourage their interest or preserve their DNA for their children who might someday be interested. We also don’t know what kind of advances the future holds.

If the parents aren’t both available, then you’ll want to test as many of your (and their) siblings as possible to attempt to recover as much of the parents’ DNA, (and matches) as possible.

Your family members’ DNA is just as valuable to your research as your own.

Increase Your Odds

Don’t let any of your inherited DNA go unused.

You can increase your odds of having autosomal matches by making sure you are in all 4 major vendor databases.

Both FamilyTreeDNA and MyHeritage accept transfers from 23andMe and Ancestry, who don’t accept transfers. Transferring and matching is free, and their unlock fees, $19 at FamilyTreeDNA, and $29 at MyHeritage, respectively, to unlock their advanced tools are both less expensive than retesting.

You’ll find easy-to-follow step-by-step transfer instructions to and from the vendors in the article DNA File Upload-Download and Transfer Instructions to and from DNA Testing Companies.

Order

You can order any of the tests mentioned above by clicking on these links:

Autosomal:

Transfers

_____________________________________________________________

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 Products and Services

Genealogy Research

Y DNA: Step-by-Step Big Y Analysis

Many males take the Big Y-700 test offered by FamilyTreeDNA, so named because testers receive the most granular haplogroup SNP results in addition to 700+ included STR marker results. If you’re not familiar with those terms, you might enjoy the article, STRs vs SNPs, Multiple DNA Personalities.

The Big Y test gives testers the best of both, along with contributing to the building of the Y phylotree. You can read about the additions to the Y tree via the Big Y, plus how it helped my own Estes project, here.

Some men order this test of their own volition, some at the request of a family member, and some in response to project administrators who are studying a specific topic – like a particular surname.

The Big Y-700 test is the most complete Y DNA test offered, testing millions of locations on the Y chromosome to reveal mutations, some unique and never before discovered, many of which are useful to genealogists. The Big Y-700 includes the traditional Y DNA STR marker testing along with SNP results that define haplogroups. Translated, both types of test results are compared to other men for genealogy, which is the primary goal of DNA testing.

Being a female, I often recruit males in my family surname lines and sponsor testing. My McNiel line, historic haplogroup R-M222, has been particularly frustrating both genealogically as well as genetically after hitting a brick wall in the 1700s. My McNeill cousin agreed to take a Big Y test, and this analysis walks through the process of understanding what those results are revealing.

After my McNeill cousin’s Big Y results came back from the lab, I spent a significant amount of time turning over every leaf to extract as much information as possible, both from the Big Y-700 DNA test itself and as part of a broader set of intertwined genetic information and genealogical evidence.

I invite you along on this journey as I explain the questions we hoped to answer and then evaluate Big Y DNA results along with other information to shed light on those quandaries.

I will warn you, this article is long because it’s a step-by-step instruction manual for you to follow when interpreting your own Big Y results. I’d suggest you simply read this article the first time to get a feel for the landscape, before working through the process with your own results. There’s so much available that most people leave laying on the table because they don’t understand how to extract the full potential of these test results.

If you’d like to read more about the Big Y-700 test, the FamilyTreeDNA white paper is here, and I wrote about the Big Y-700 when it was introduced, here.

You can read an overview of Y DNA, here, and Y DNA: The Dictionary of DNA, here.

Ok, get yourself a cuppa joe, settle in, and let’s go!

George and Thomas McNiel – Who Were They?

George and Thomas McNiel appear together in Spotsylvania County, Virginia records. Y DNA results, in combination with early records, suggest that these two men were brothers.

I wrote about discovering that Thomas McNeil’s descendant had taken a Y DNA test and matched George’s descendants, here, and about my ancestor George McNiel, here.

McNiel family history in Wilkes County, NC, recorded in a letter written in 1898 by George McNiel’s grandson tells us that George McNiel, born about 1720, came from Scotland with his two brothers, John and Thomas. Elsewhere, it was reported that the McNiel brothers sailed from Glasgow, Scotland and that George had been educated at the University of Edinburgh for the Presbyterian ministry but had a change of religious conviction during the voyage. As a result, a theological tiff developed that split the brothers.

George, eventually, if not immediately, became a Baptist preacher. His origins remain uncertain.

The brothers reportedly arrived about 1750 in Maryland, although I have no confirmation. By 1754, Thomas McNeil appeared in the Spotsylvania County, VA records with a male being apprenticed to him as a tailor. In 1757, in Spotsylvania County, the first record of George McNeil showed James Pey being apprenticed to learn the occupation of tailor.

If George and Thomas were indeed tailors, that’s not generally a country occupation and would imply that they both apprenticed as such when they were growing up, wherever that was.

Thomas McNeil is recorded in one Spotsylvania deed as being from King and Queen County, VA. If this is the case, and George and Thomas McNiel lived in King and Queen, at least for a time, this would explain the lack of early records, as King and Queen is a thrice-burned county. If there was a third brother, John, I find no record of him.

My now-deceased cousin, George McNiel, initially tested for the McNiel Y DNA and also functioned for decades as the family historian. George, along with his wife, inventoried the many cemeteries of Wilkes County, NC.

George believed through oral history that the family descended from the McNiel’s of Barra.

McNiel Big Y Kisumul

George had this lovely framed print of Kisimul Castle, seat of the McNiel Clan on the Isle of Barra, proudly displayed on his wall.

That myth was dispelled with the initial DNA testing when our line did not match the Barra line, as can be seen in the MacNeil DNA project, much to George’s disappointment. As George himself said, the McNiel history is both mysterious and contradictory. Amen to that, George!

McNiel Big Y Niall 9 Hostages

However, in place of that history, we were instead awarded the Niall of the 9 Hostages badge, created many years ago based on a 12 marker STR result profile. Additionally, the McNiel DNA was assigned to haplogroup R-M222. Of course, today’s that’s a far upstream haplogroup, but 15+ years ago, we had only a fraction of the testing or knowledge that we do today.

The name McNeil, McNiel, or however you spell it, resembles Niall, so on the surface, this made at least some sense. George was encouraged by the new information, even though he still grieved the loss of Kisimul Castle.

Of course, this also caused us to wonder about the story stating our line had originated in Scotland because Niall of the 9 Hostages lived in Ireland.

Niall of the 9 Hostages

Niall of the 9 Hostages was reportedly a High King of Ireland sometime between the 6th and 10th centuries. However, actual historical records place him living someplace in the mid-late 300s to early 400s, with his death reported in different sources as occurring before 382 and alternatively about 411. The Annals of the Four Masters dates his reign to 379-405, and Foras Feasa ar Eirinn says from 368-395. Activities of his sons are reported between 379 and 405.

In other words, Niall lived in Ireland about 1500-1600 years ago, give or take.

Migration

Generally, migration was primarily from Scotland to Ireland, not the reverse, at least as far as we know in recorded history. Many Scottish families settled in the Ulster Plantation beginning in 1606 in what is now Northern Ireland. The Scots-Irish immigration to the states had begun by 1718. Many Protestant Scottish families immigrated from Ireland carrying the traditional “Mc” names and Presbyterian religion, clearly indicating their Scottish heritage. The Irish were traditionally Catholic. George could have been one of these immigrants.

We have unresolved conflicts between the following pieces of McNeil history:

  • Descended from McNeil’s of Barra – disproved through original Y DNA testing.
  • Immigrated from Glasgow, Scotland, and schooled in the Presbyterian religion in Edinburgh.
  • Descended from the Ui Neill dynasty, an Irish royal family dominating the northern half of Ireland from the 6th to 10th centuries.

Of course, it’s possible that our McNiel/McNeil line could have been descended from the Ui Neill dynasty AND also lived in Scotland before immigrating.

It’s also possible that they immigrated from Ireland, not Scotland.

And finally, it’s possible that the McNeil surname and M222 descent are not related and those two things are independent and happenstance.

A New Y DNA Tester

Since cousin George is, sadly, deceased, we needed a new male Y DNA tester to represent our McNiel line. Fortunately, one such cousin graciously agreed to take the Big Y-700 test so that we might, hopefully, answer numerous questions:

  • Does the McNiel line have a unique haplogroup, and if so, what does it tell us?
  • Does our McNiel line descend from Ireland or Scotland?
  • Where are our closest geographic clusters?
  • What can we tell by tracing our haplogroup back in time?
  • Do any other men match the McNiel haplogroup, and what do we know about their history?
  • Does the Y DNA align with any specific clans, clan history, or prehistory contributing to clans?

With DNA, you don’t know what you don’t know until you test.

Welcome – New Haplogroup

I was excited to see my McNeill cousin’s results arrive. He had graciously allowed me access, so I eagerly took a look.

He had been assigned to haplogroup R-BY18350.

McNiel Big Y branch

Initially, I saw that indeed, six men matched my McNeill cousin, assigned to the same haplogroup. Those surnames were:

  • Scott
  • McCollum
  • Glass
  • McMichael
  • Murphy
  • Campbell

Notice that I said, “were.” That’s right, because shortly after the results were returned, based on markers called private variants, Family Tree DNA assigned a new haplogroup to my McNeill cousin.

Drum roll please!!!

Haplogroup R-BY18332

McNiel Big Y BY18332

Additionally, my cousin’s Big Y test resulted in several branches being split, shown on the Block Tree below.

McNIel Big Y block tree

How cool is this!

This Block Tree graphic shows, visually, that our McNiel line is closest to McCollum and Campbell testers, and is a brother clade to those branches showing to the left and right of our new R-BY18332. It’s worth noting that BY25938 is an equivalent SNP to BY18332, at least today. In the future, perhaps another tester will test, allowing those two branches to be further subdivided.

Furthermore, after the new branches were added, Cousin McNeill has no more Private Variants, which are unnamed SNPs. There were all utilized in naming additional tree branches!

I wrote about the Big Y Block Tree here.

Niall (Or Whoever) Was Prolific

The first thing that became immediately obvious was how successful our progenitor was.

McNiel Big Y M222 project

click to enlarge

In the MacNeil DNA project, 38 men with various surname spellings descend from M222. There are more in the database who haven’t joined the MacNeil project.

Whoever originally carried SNP R-M222, someplace between 2400 and 5900 years ago, according to the block tree, either had many sons who had sons, or his descendants did. One thing is for sure, his line certainly is in no jeopardy of dying out today.

The Haplogroup R-M222 DNA Project, which studies this particular haplogroup, reads like a who’s who of Irish surnames.

Big Y Match Results

Big Y matches must have no more than 30 SNP differences total, including private variants and named SNPs combined. Named SNPs function as haplogroup names. In other words, Cousin McNeill’s terminal SNP, meaning the SNP furthest down on the tree, R-BY18332, is also his haplogroup name.

Private variants are mutations that have occurred in the line being tested, but not yet in other lines. Occurrences of private variants in multiple testers allow the Private Variant to be named and placed on the haplotree.

Of course, Family Tree DNA offers two types of Y DNA testing, STR testing which is the traditional 12, 25, 37, 67 and 111 marker testing panels, and the Big Y-700 test which provides testers with:

  • All 111 STR markers used for matching and comparison
  • Another 589+ STR markers only available through the Big Y test increasing the total STR markers tested from 111 to minimally 700
  • A scan of the Y chromosome, looking for new and known SNPs and STR mutations

Of course, these tests keep on giving, both with matching and in the case of the Big Y – continued haplogroup discovery and refinement in the future as more testers test. The Big Y is an investment as a test that keeps on giving, not just a one-time purchase.

I wrote about the Big Y-700 when it was introduced here and a bit later here.

Let’s see what the results tell us. We’ll start by taking a look at the matches, the first place that most testers begin.

Mcniel Big Y STR menu

Regular Y DNA STR matching shows the results for the STR results through 111 markers. The Big Y section, below, provides results for the Big Y SNPs, Big Y matches and additional STR results above 111 markers.

McNiel Big Y menu

Let’s take a look.

STR and SNP Testing

Of Cousin McNeil’s matches, 2 Big Y testers and several STR testers carry some variant of the Neal, Neel, McNiel, McNeil, O’Neil, etc. surnames by many spellings.

While STR matching is focused primarily on a genealogical timeframe, meaning current to roughly 500-800 years in the past, SNP testing reaches much further back in time.

  • STR matching reaches approximately 500-800 years.
  • Big Y matching reaches approximately 1500 years.
  • SNPs and haplogroups reach back infinitely, and can be tracked historically beyond the genealogical timeframe, shedding light on our ancestors’ migration paths, helping to answer the age-old question of “where did we come from.”

These STR and Big Y time estimates are based on a maximum number of mutations for testers to be considered matches paired with known genealogy.

Big Y results consider two men a match if they have 30 or fewer total SNP differences. Using NGS (next generation sequencing) scan technology, the targeted regions of the Y chromosome are scanned multiple times, although not all regions are equally useful.

Individually tested SNPs are still occasionally available in some cases, but individual SNP testing has generally been eclipsed by the greatly more efficient enriched technology utilized with Big Y testing.

Think of SNP testing as walking up to a specific location and taking a look, while NGS scan technology is a drone flying over the entire region 30-50 times looking multiple times to be sure they see the more distant target accurately.

Multiple scans acquiring the same read in the same location, shown below in the Big Y browser tool by the pink mutations at the red arrow, confirm that NGS sequencing is quite reliable.

McNiel Big Y browser

These two types of tests, STR panels 12-111 and the SNP-based Big Y, are meant to be utilized in combination with each other.

STR markers tend to mutate faster and are less reliable, experiencing frustrating back mutations. SNPs very rarely experience this level of instability. Some regions of the Y chromosome are messier or more complicated than others, causing problems with interpreting reads reliably.

For purposes of clarity, the string of pink A reads above is “not messy,” and “A” is very clearly a mutation because all ~39 scanned reads report the same value of “A,” and according to the legend, all of those scans are high quality. Multiple combined reads of A and G, for example, in the same location, would be tough to call accurately and would be considered unreliable.

You can see examples of a few scattered pink misreads, above.

The two different kinds of tests produce results for overlapping timeframes – with STR mutations generally sifting through closer relationships and SNPs reaching back further in time.

Many more men have taken the Y DNA STR tests over the last 20 years. The Big Y tests have only been available for the past handful of years.

STR testing produces the following matches for my McNiel cousin:

STR Level STR Matches STR Matches Who Took the Big Y % STR Who Took Big Y STR Matches Who Also Match on the Big Y
12 5988 796 13 52
25 6660 725 11 57
37 878 94 11 12
67 1225 252 21 23
111 4 2 50 1

Typically, one would expect that all STR matches that took the Big Y would match on the Big Y, since STR results suggest relationships closer in time, but that’s not the case.

  • Many STR testers who have taken the Big Y seem to be just slightly too distant to be considered a Big Y match using SNPs, which flies in the face of conventional wisdom.
  • However, this could easily be a function of the fact that STRs mutate both backward and forwards and may have simply “happened” to have mutated to a common value – which suggests a closer relationship than actually exists.
  • It could also be that the SNP matching threshold needs to be raised since the enhanced and enriched Big Y-700 technology now finds more mutations than the older Big Y-500. I would like to see SNP matching expanded to 40 from 30 because it seems that clan connections may be being missed. Thirty may have been a great threshold before the more sensitive Big Y-700 test revealed more mutations, which means that people hit that 30 threshold before they did with previous tests.
  • Between the combination of STRs and SNPs mutating at the same time, some Big Y matches are pushed just out of range.

In a nutshell, the correlation I expected to find in terms of matching between STR and Big Y testing is not what I found. Let’s take a look at what we discovered.

It’s worth noting that the analysis is easier if you are working together with at least your closest matches or have access via projects to at least some of their results. You can see common STR values to 111 in projects, such as surname projects. Project administrators can view more if project members have allowed access.

Unexpected Discoveries and Gotchas

While I did expect STR matches to also match on the Big Y, I don’t expect the Big Y matches to necessarily match on the STR tests. After all, the Big Y is testing for more deep-rooted history.

Only one of the McNiel Big Y matches also matches at all levels of STR testing. That’s not surprising since Big Y matching reaches further back in time than STR testing, and indeed, not all STR testers have taken a Big Y test.

Of my McNeill cousin’s closest Big Y matches, we find the following relative to STR matching.

Surname Ancestral Location Big Y Variant/SNP Difference STR Match Level
Scott 1565 in Buccleuch, Selkirkshire, Scotland 20 12, 25, 37, 67
McCollum Not listed 21 67 only
Glass 1618 in Banbridge, County Down, Ireland 23 12, 25, 67
McMichael 1720 County Antrim, Ireland 28 67 only
Murphy Not listed 29 12, 25, 37, 67
Campbell Scotland 30 12, 25, 37, 67, 111

It’s ironic that the man who matches on all STR levels has the most variants, 30 – so many that with 1 more, he would not have been considered a Big Y match at all.

Only the Campbell man matches on all STR panels. Unfortunately, this Campbell male does not match the Clan Campbell line, so that momentary clan connection theory is immediately put to rest.

Block Tree Matches – What They Do, and Don’t, Mean

Note that a Carnes male, the other person who matches my McNeill cousin at 111 STR markers and has taken a Big Y test does not match at the Big Y level. His haplogroup BY69003 is located several branches up the tree, with our common ancestor, R-S588, having lived about 2000 years ago. Interestingly, we do match other R-S588 men.

This is an example where the total number of SNP mutations is greater than 30 for these 2 men (McNeill and Carnes), but not for my McNeill cousin compared with other men on the same S588 branch.

McNiel Big Y BY69003

By searching for Carnes on the block tree, I can view my cousin’s match to Mr. Carnes, even though they don’t match on the Big Y. STR matches who have taken the Big Y test, even if they don’t match at the Big Y level, are shown on the Block Tree on their branch.

By clicking on the haplogroup name, R-BY69003, above, I can then see three categories of information about the matches at that haplogroup level, below.

McNiel Big Y STR differences

click to enlarge

By selecting “Matches,” I can see results under the column, “Big Y.” This does NOT mean that the tester matches either Mr. Carnes or Mr. Riker on the Big Y, but is telling me that there are 14 differences out of 615 STR markers above 111 markers for Mr. Carnes, and 8 of 389 for Mr. Riker.

In other words, this Big Y column is providing STR information, not indicating a Big Y match. You can’t tell one way or another if someone shown on the Block Tree is shown there because they are a Big Y match or because they are an STR match that shares the same haplogroup.

As a cautionary note, your STR matches that have taken the Big Y ARE shown on the block tree, which is a good thing. Just don’t assume that means they are Big Y matches.

The 30 SNP threshold precludes some matches.

My research indicates that the people who match on STRs and carry the same haplogroup, but don’t match at the Big Y level, are every bit as relevant as those who do match on the Big Y.

McNIel Big Y block tree menu

If you’re not vigilant when viewing the block tree, you’ll make the assumption that you match all of the people showing on the Block Tree on the Big Y test since Block Tree appears under the Big Y tools. You have to check Big Y matches specifically to see if you match people shown on the Block Tree. You don’t necessarily match all of them on the Big Y test, and vice versa, of course.

You match Block Tree inhabitants either:

  • On the Big Y, but not the STR panels
  • On the Big Y AND at least one level of STRs between 12 and 111, inclusive
  • On STRs to someone who has taken the Big Y test, but whom you do not match on the Big Y test

Big Y-500 or Big Y-700?

McNiel Big Y STR differences

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Looking at the number of STR markers on the matches page of the Block Tree for BY69003, above, or on the STR Matches page is the only way to determine whether or not your match took the Big Y-700 or the Big Y-500 test.

If you add 111 to the Big Y SNP number of 615 for Mr. Carnes, the total equals 726, which is more than 700, so you know he took the Big Y-700.

If you add 111 to 389 for Mr. Riker, you get 500, which is less than 700, so you know that he took the Big Y-500 and not the Big Y-700.

There are still a very small number of men in the database who did not upgrade to 111 when they ordered their original Big Y test, but generally, this calculation methodology will work. Today, all Big Y tests are upgraded to 111 markers if they have not already tested at that level.

Why does Big Y-500 vs Big Y-700 matter? The enriched chemistry behind the testing technology improved significantly with the Big Y-700 test, enhancing Y-DNA results. I was an avowed skeptic until I saw the results myself after upgrading men in the Estes DNA project. In other words, if Big Y-500 testers upgrade, they will probably have more SNPs in common.

You may want to contact your closest Big Y-500 matches and ask if they will consider upgrading to the Big Y-700 test. For example, if we had close McNiel or similar surname matches, I would do exactly that.

Matching Both the Big Y and STRs – No Single Source

There is no single place or option to view whether or not you match someone BOTH on the Big Y AND STR markers. You can see both match categories individually, of course, but not together.

You can determine if your STR matches took the Big Y, below, and their haplogroup, which is quite useful, but you can’t tell if you match them at the Big Y level on this page.

McNiel Big Y STR match Big Y

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Selecting “Display Only Matches With Big Y” means displaying matches to men who took the Big Y test, not necessarily men you match on the Big Y. Mr. Conley, in the example above, does not match my McNeill cousin on the Big Y but does match him at 12 and 25 STR markers.

I hope FTDNA will add three display options:

  • Select only men that match on the Big Y in the STR panel
  • Add an option for Big Y on the advanced matches page
  • Indicate men who also match on STRs on the Big Y match page

It was cumbersome and frustrating to have to view all of the matches multiple times to compile various pieces of information in a separate spreadsheet.

No Big Y Match Download

There is also no option to download your Big Y matches. With a few matches, this doesn’t matter, but with 119 matches, or more, it does. As more people test, everyone will have more matches. That’s what we all want!

What you can do, however, is to download your STR matches from your match page at levels 12-111 individually, then combine them into one spreadsheet. (It would be nice to be able to download them all at once.)

McNiel Big Y csv

You can then add your Big Y matches manually to the STR spreadsheet, or you can simply create a separate Big Y spreadsheet. That’s what I chose to do after downloading my cousin’s 14,737 rows of STR matches. I told you that R-M222 was prolific! I wasn’t kidding.

This high number of STR matches also perfectly illustrates why the Big Y SNP results were so critical in establishing the backbone relationship structure. Using the two tools together is indispensable.

An additional benefit to downloading STR results is that you can sort the STR spreadsheet columns in surname order. This facilitates easily spotting all spelling variations of McNiel, including words like Niel, Neal and such that might be relevant but that you might not notice otherwise.

Creating a Big Y Spreadsheet

My McNiel cousin has 119 Big Y-700 matches.

I built a spreadsheet with the following columns facilitating sorting in a number of ways, with definitions as follows:

McNiel Big Y spreadsheet

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  • First Name
  • Last Name – You will want to search matches on your personal page at Family Tree DNA by this surname later, so be sure if there is a hyphenated name to enter it completely.
  • Haplogroup – You’ll want to sort by this field.
  • Convergent – A field you’ll complete when doing your analysis. Convergence is the common haplogroup in the tree shared by you and your match. In the case of the green matches above, which are color-coded on my spreadsheet to indicate the closest matches with my McNiel cousin, the convergent haplogroup is BY18350.
  • Common Tree Gen – This column is the generations on the Block Tree shown to this common haplogroup. In the example above, it’s between 9 and 14 SNP generations. I’ll show you where to gather this information.
  • Geographic Location – Can be garnered from 4 sources. No color in that cell indicates that this information came from the Earliest Known Ancestor (EKA) field in the STR matches. Blue indicates that I opened the tree and pulled the location information from that source. Orange means that someone else by the same surname whom the tester also Y DNA matches shows this location. I am very cautious when assigning orange, and it’s risky because it may not be accurate. A fourth source is to use Ancestry, MyHeritage, or another genealogical resource to identify a location if an individual provides genealogical information but no location in the EKA field. Utilizing genealogy databases is only possible if enough information is provided to make a unique identification. John Smith 1700-1750 won’t do it, but Seamus McDougal (1750-1810) married to Nelly Anderson might just work.
  • STR Match – Tells me if the Big Y match also matches on STR markers, and if so, which ones. Only the first 111 markers are used for matching. No STR match generally means the match is further back in time, but there are no hard and fast rules.
  • Big Y Match – My original goal was to combine this information with the STR match spreadsheet. If you don’t wish to combine the two, then you don’t need this column.
  • Tree – An easy way for me to keep track of which matches do and do not have a tree. Please upload or create a tree.

You can also add a spreadsheet column for comments or contact information.

McNiel Big Y profile

You will also want to click your match’s name to display their profile card, paying particular attention to the “About Me” information where people sometimes enter genealogical information. Also, scan the Ancestral Surnames where the match may enter a location for a specific surname.

Private Variants

I added additional spreadsheet columns, not shown above, for Private Variant analysis. That level of analysis is beyond what most people are interested in doing, so I’m only briefly discussing this aspect. You may want to read along, so you at least understand what you are looking at.

Clicking on Private Variants in your Big Y Results shows your variants, or mutations, that are unnamed as SNPs. When they are named, they become SNPs and are placed on the haplotree.

The reference or “normal” state for the DNA allele at that location is shown as the “Reference,” and “Genotype” is the result of the tester. Reference results are not shown for each tester, because the majority are the same. Only mutations are shown.

McNiel Big Y private variants

There are 5 Private Variants, total, for my cousin. I’ve obscured the actual variant numbers and instead typed in 111111 and 222222 for the first two as examples.

McNiel Big Y nonmatching variants

In our example, there are 6 Big Y matches, with matches one and five having the non-matching variants shown above.

Non-matching variants mean that the match, Mr. Scott, in example 1, does NOT match the tester (my cousin) on those variants.

  • If the tester (you) has no mutation, you won’t have a Private Variant shown on your Private Variant page.
  • If the tester does have a Private Variant shown, and that variant shows ON their matches list of non-matching variants, it means the match does NOT match the tester, and either has the normal reference value or a different mutation. Explained another way, if you have a mutation, and that variant is listed on your match list of Non-Matching Variants, your match does NOT match you and does NOT have the same mutation.
  • If the match does NOT have the Private Variant on their list, that means the match DOES match the tester, and they both have the same mutation, making this Private Variant a candidate to be named as a new SNP.
  • If you don’t have a Private Variant listed, but it shows in the Non-Matching Variants of your match, that means you have the reference or normal value, and they have a mutation.

In example #1, above, the tester has a mutation at variant 111111, and 111111 is shown as a Non-Matching Variant to Mr. Scott, so Mr. Scott does NOT match the tester. Mr. Scott also does NOT match the tester at locations 222222 and 444444.

In example #5, 111111 is NOT shown on the Non-Matching Variant list, so Mr. Treacy DOES match the tester.

I have a terrible time wrapping my head around the double negatives, so it’s critical that I make charts.

On the chart below, I’ve listed the tester’s private variants in an individual column each, so 111111, 222222, etc.

For each match, I’ve copy and pasted their Non-Matching Variants in a column to the right of the tester’s variants, in the lavender region. In this example, I’ve typed the example variants into separate columns for each tester so you can see the difference. Remember, a non-matching variant means they do NOT match the tester’s mutation.

McNiel private variants spreadsheet

On my normal spreadsheet where the non-matching variants don’t have individuals columns, I then search for the first variant, 111111. If the variant does appear in the list, it means that match #1 does NOT have the mutation, so I DON’T put an X in the box for match #1 under 111111.

In the example above, the only match that does NOT have 111111 on their list of Non-Matching Variants is #5, so an X IS placed in that corresponding cell. I’ve highlighted that column in yellow to indicate this is a candidate for a new SNP.

You can see that no one else has the variant, 222222, so it truly is totally private. It’s not highlighted in yellow because it’s not a candidate to be a new SNP.

Everyone shares mutation 333333, so it’s a great candidate to become a new SNP, as is 555555.

Match #6 shares the mutation at 444444, but no one else does.

This is a manual illustration of an automated process that occurs at Family Tree DNA. After Big Y matches are returned, automated software creates private variant lists of potential new haplogroups that are then reviewed internally where SNPs are evaluated, named, and placed on the tree if appropriate.

If you follow this process and discover matches, you probably don’t need to do anything, as the automated review process will likely catch up within a few days to weeks.

Big Y Matches

In the case of the McNiel line, it was exciting to discover several private variants, mutations that were not yet named SNPs, found in several matches that were candidates to be named as SNPs and placed on the Y haplotree.

Sure enough, a few days later, my McNeill cousin had a new haplogroup assignment.

Most people have at least one Private Variant, locations in which they do NOT match another tester. When several people have these same mutations, and they are high-quality reads, the Private Variant qualifies to be added to the haplotree as a SNP, a task performed at FamilyTreeDNA by Michael Sager.

If you ever have the opportunity to hear Michael speak, please do so. You can watch Michael’s presentation at Genetic Genealogy Ireland (GGI) titled “The Tree of Mankind,” on YouTube, here, compliments of Maurice Gleeson who coordinates GGI. Maurice has also written about the Gleeson Y DNA project analysis, here.

As a result of Cousin McNeill’s test, six new SNPs have been added to the Y haplotree, the tree of mankind. You can see our new haplogroup for our branch, BY18332, with an equivalent SNP, BY25938, along with three sibling branches to the left and right on the tree.

McNiel Big Y block tree 4 branch

Big Y testing not only answers genealogical questions, it advances science by building out the tree of mankind too.

The surname of the men who share the same haplogroup, R-BY18332, meaning the named SNP furthest down the tree, are McCollum and Campbell. Not what I expected. I expected to find a McNeil who does match on at least some STR markers. This is exactly why the Big Y is so critical to define the tree structure, then use STR matches to flesh it out.

Taking the Big Y-700 test provided granularity between 6 matches, shown above, who were all initially assigned to the same branch of the tree, BY18350, but were subsequently divided into 4 separate branches. My McNiel cousin is no longer equally as distant from all 6 men. We now know that our McNiel line is genetically closer on the Y chromosome to Campbell and McCollum and further distant from Murphy, Scott, McMichael, and Glass.

Not All SNP Matches are STR Matches

Not all SNP matches are also STR matches. Some relationships are too far back in time. However, in this case, while each person on the BY18350 branches matches at some STR level, only the Campbell individual matches at all STR levels.

Remember that variants (mutations) are accumulating down both respective branches of the tree at the same time, meaning one per roughly every 100 years (if 100 is the average number we want to use) for both testers. A total of 30 variants or mutations difference, an average of 15 on each branch of the tree (McNiel and their match) would suggest a common ancestor about 1500 years ago, so each Big Y match should have a common ancestor 1500 years ago or closer. At least on average, in theory.

The Big Y test match threshold is 30 variants, so if there were any more mismatches with the Campbell male, they would not have been a Big Y match, even though they have the exact same haplogroup.

Having the same haplogroup means that their terminal SNP is identical, the SNP furthest down the tree today, at least until someone matches one of them on their Private Variants (if any remain unnamed) and a new terminal SNP is assigned to one or both of them.

Mutations, and when they happen, are truly a roll of the dice. This is why viewing all of your Big Y Block Tree matches is critical, even if they don’t show on your Big Y match list. One more variant and Campbell would have not been shown as a match, yet he is actually quite close, on the same branch, and matches on all STR panels as well.

SNPs Establish the Backbone Structure

I always view the block tree first to provide a branching tree structure, then incorporate STR matches into the equation. Both can equally as important to genealogy, but haplogroup assignment is the most accurate tool, regardless of whether the two individuals match on the Big Y test, especially if the haplogroups are relatively close.

Let’s work with the Block Tree.

The Block Tree

McNIel Big Y block tree menu

Clicking on the link to the Block Tree in the Big Y results immediately displays the tester’s branch on the tree, below.

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On the left side are SNP generation markers. Keep in mind that approximate SNP generations are marked every 5 generations. The most recent generations are based on the number of private variants that have not yet been assigned as branches on the tree. It’s possible that when they are assigned that they will be placed upstream someplace, meaning that placement will reduce the number of early branches and perhaps increase the number of older branches.

The common haplogroup of all of the branches shown here with the upper red arrow is R-BY3344, about 15 SNP generations ago. If you’re using 100 years per SNP generation, that’s about 1500 years. If you’re using 80 years, then 1200 years ago. Some people use even fewer years for calculations.

If some of the private variants in the closer branches disappear, then the common ancestral branch may shift to closer in time.

This tree will always be approximate because some branches can never be detected. They have disappeared entirely over time when no males exist to reproduce.

Conversely, subclades have been born since a common ancestor clade whose descendants haven’t yet tested. As more people test, more clades will be discovered.

Therefore, most recent common ancestor (MRCA) haplogroup ages can only be estimated, based on who has tested and what we know today. The tree branches also vary depending on whether testers have taken the Big Y-500 or the more sensitive Big Y-700, which detects more variants. The Y haplotree is a combination of both.

Big Y-500 results will not be as granular and potentially do not position test-takers as far down the tree as Big Y-700 results would if they upgraded. You’ll need to factor that into your analysis if you’re drawing genealogical conclusions based on these results, especially close results.

You’ll note that the direct path of descent is shown above with arrows from BY3344 through the first blue box with 5 equivalent SNPS, to the next white box, our branch, with two equivalent SNPs. Our McNeil ancestor, the McCollum tester, and the Campell tester have no unresolved private variants between them, which suggests they are probably closer in time than 10 generations back. You can see that the SNP generations are pushed “up” by the neighbor variants.

Because of the fact that private variants don’t occur on a clock cycle and occur in individual lines at an unsteady rate, we must use averages.

That means that when we look further “up” the tree, clicking generation by generation on the up arrow above BY3344, the SNP generations on the left side “adjust” based on what is beneath, and unseen at that level.

The Block Tree Adjusts

Note, in the example above, BY3344 is at SNP generation 15.

Next, I clicked one generation upstream, to R-S668.

McNiel Big Y block tree S668

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You can see that S668 is about 21 SNP generations upstream, and now BY3344 is listed as 20 generations, not 15. You can see our branch, BY3344, but you can no longer see subclades or our matches below that branch in this view.

You can, however, see two matches that descend through S668, brother branches to BY3344, red arrows at far right.

Clicking on the up arrow one more time shows us haplogroup S673, below, and the child branches. The three child branches on which the tester has matches are shown with red arrows.

McNiel Big Y S673

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You’ll immediately notice that now S668 is shown at 19 SNP generations, not 20, and S673 is shown at 20. This SNP generation difference between views is a function of dealing with aggregated and averaged private variants on combined lines and causes the SNP generations to shift. This is also why I always say “about.”

As you continue to click up the tree, the shifting SNP generations continue, reminding us that we can’t truly see back in time. We can only achieve approximations, but those approximations improve as more people test, and more SNPs are named and placed in their proper places on the phylotree.

I love the Block Tree, although I wish I could see further side-to-side, allowing me to view all of the matches on one expanded tree so I can easily see their relationships to the tester, and each other.

Countries and Origins

In addition to displaying shared averaged autosomal origins of testers on a particular branch, if they have taken the Family Finder test and opted-in to sharing origins (ethnicity) results, you can also view the countries indicated by testers on that branch along with downstream branches of the tree.

McNiel Big Y countries

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For example, the Countries tab for S673 is shown above. I can see matches on this branch with no downstream haplogroup currently assigned, as well as cumulative results from downstream branches.

Still, I need to be able to view this information in a more linear format.

The Block Tree and spreadsheet information beautifully augment the haplotree, so let’s take a look.

The Haplotree

On your Y DNA results page, click on the “Haplotree and SNPs” link.

McNIel Big Y haplotree menu

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The Y haplotree will be displayed in pedigree style, quite familiar to genealogists. The SNP legend will be shown at the top of the display. In some cases, “presumed positive” results occur where coverage is lacking, back mutations or read errors are encountered. Presumed positive is based on positive SNPs further down the tree. In other words, that yellow SNP below must read positive or downstream ones wouldn’t.

McNIel Big Y pedigree descent

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The tester’s branch is shown with the grey bar. To the right of the haplogroup-defining SNP are listed the branch and equivalent SNP names. At far right, we see the total equivalent SNPs along with three dots that display the Country Report. I wish the haplotree also showed my matches, or at least my matching surnames, allowing me to click through. It doesn’t, so I have to return to the Big Y page or STR Matches page, or both.

I’ve starred each branch through which my McNiell cousin descends. Sibling branches are shown in grey. As you’ll recall from the Block Tree, we do have matches on those sibling branches, shown side by side with our branch.

The small numbers to the right of the haplogroup names indicate the number of downstream branches. BY18350 has three, all displayed. But looking upstream a bit, we see that DF97 has 135 downstream branches. We also have matches on several of those branches. To show those branches, simply click on the haplogroup.

The challenge for me, with 119 McNeill matches, is that I want to see a combination of the block tree, my spreadsheet information, and the haplotree. The block tree shows the names, my spreadsheet tells me on which branches to look for those matches. Many aren’t easily visible on the block tree because they are downstream on sibling branches.

Here’s where you can find and view different pieces of information.

Data and Sources STR Matches Page Big Y Matches Page Block Tree Haplogroups & SNPs Page
STR matches Yes No, but would like to see who matches at which STR levels If they have taken Big Y test, but doesn’t mean they match on Big Y matching No
SNP matches *1 Shows if STR match has common haplogroup, but not if tester matches on Big Y No, but would like to see who matches at which STR level Big Y matches and STR matches that aren’t Big Y matches are both shown No, but need this feature – see combined haplotree/ block tree
Other Haplogroup Branch Residents Yes, both estimated and tested No, use block tree or click through to profile card, would like to see haplogroup listed for Big Y matches Yes, both Big Y and STR tested, not estimated. Cannot tell if person is Big Y match or STR match, or both. No individuals, but would like that as part of countries report, see combined haplotree/block tree
Fully Expanded Phylotree No No Would like ability to see all branches with whom any Big Y or STR match resides at one time, even if it requires scrolling Yes, but no match information. Matches report could be added like on Block Tree.
Averaged Ethnicities if Have FF Test No No Yes, by haplogroup branch No
Countries Matches map STR only No, need Big Y matches map Yes Yes
Earliest Known Ancestor Yes No, but can click through to profile card No No
Customer Trees Yes No, need this link No No
Profile Card Yes, click through Yes, click through Yes, click through No match info on this page
Downloadable data By STR panel only, would like complete download with 1 click, also if Big Y or FF match Not available at all No No
Path to common haplogroup No No, but would like to see matches haplogroup and convergent haplogroup displayed No, would like the path to convergent haplogroup displayed as an option No, see combined match-block -haplotree in next section

*1 – the best way to see the haplogroup of a Big Y match is to click on their name to view their profile card since haplogroup is not displayed on the Big Y match page. If you happen to also match on STRs, their haplogroup is shown there as well. You can also search for their name using the block tree search function to view their haplogroup.

Necessity being the mother of invention, I created a combined match/block tree/haplotree.

And I really, REALLY hope Family Tree DNA implements something like this because, trust me, this was NOT fun! However, now that it’s done, it is extremely useful. With fewer matches, it should be a breeze.

Here are the steps to create the combined reference tree.

Combo Match/Block/Haplotree

I used Snagit to grab screenshots of the various portions of the haplotree and typed the surnames of the matches in the location of our common convergent haplogroup, taken from the spreadsheet. I also added the SNP generations in red for that haplogroup, at far left, to get some idea of when that common ancestor occurred.

McNIel Big Y combo tree

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This is, in essence, the end-goal of this exercise. There are a few steps to gather data.

Following the path of two matches (the tester and a specific match) you can find their common haplogroup. If your match is shown on the block tree in the same view with your branch, it’s easy to see your common convergent parent haplogroup. If you can’t see the common haplogroup, it’s takes a few extra steps by clicking up the block tree, as illustrated in an earlier section.

We need the ability to click on a match and have a tree display showing both paths to the common haplogroup.

McNiel Big Y convergent

I simulated this functionality in a spreadsheet with my McNiel cousin, a Riley match, and an Ocain match whose terminal SNP is the convergent SNP (M222) between Riley and McNiel. Of course, I’d also like to be able to click to see everyone on one chart on their appropriate branches.

Combining this information onto the haplotree, in the first image, below, M222, 4 men match my McNeill cousin – 2 who show M222 as their terminal SNP, and 2 downstream of M222 on a divergent branch that isn’t our direct branch. In other words, M222 is the convergence point for all 4 men plus my McNeill cousin.

McNiel Big Y M222 haplotree

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In the graphic below, you can see that M222 has a very large number of equivalent SNPs, which will likely become downstream haplogroups at some point in the future. However, today, these equivalent SNPs push M222 from 25 generations to 59. We’ll discuss how this meshes with known history in a minute.

McNiel Big Y M222 block tree

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Two men, Ocain and Ransom, who have both taken the Big Y, whose terminal SNP is M222, match my McNiel cousin. If their common ancestor was actually 59 generations in the past, it’s very, very unlikely that they would match at all given the 30 mutation threshold.

On my reconstructed Match/Block/Haplotree, I included the estimated SNP generations as well. We are starting with the most distant haplogroups and working our way forward in time with the graphics, below.

Make no mistake, there are thousands more men who descend from M222 that have tested, but all of those men except 4 have more than 30 mutations total, so they are not shown as Big Y matches, and they are not shown individually on the Block Tree because they neither match on the Big Y or STR tests. However, there is a way to view information for non-matching men who test positive for M222.

McNiel Big Y M222 countries

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Looking at the Block Tree for M222, many STR match men took a SNP test only to confirm M222, so they would be shown positive for the M222 SNP on STR results and, therefore, in the detailed view of M222 on the Block tree.

Haplogroup information about men who took the M222 test and whom the tester doesn’t match at all are shown here as well in the country and branch totals for R-M222. Their names aren’t displayed because they don’t match the tester on either type of Y DNA test.

Back to constructing my combined tree, I’ve left S658 in both images, above and below, as an overlap placeholder, as we move further down, or towards current, on the haplotree.

McNiel Big Y combo tree center

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Note that BY18350, above, is also an overlap connecting below.

You’ll recall that as a result of the Big Y test, BY18350 was split and now has three child branches plus one person whose terminal SNP is BY18350. All of the men shown below were on one branch until Big Y results revealed that BY18350 needed to be split, with multiple new haplogroups added to the tree.

McNiel Big Y combo tree current

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Using this combination of tools, it’s straightforward for me to see now that our McNiel line is closest to the Campbell tester from Scotland according to the Big Y test + STRs.

Equal according to the Big Y test, but slightly more distant, according to STR matching, is McCollum. The next closest would be sibling branches. Then in the parent group of the other three, BY18350, we find Glass from Scotland.

In BY18350 and subgroups, we find several Scotland locations and one Northern Ireland, which was likely from Scotland initially, given the surname and Ulster Plantation era.

The next upstream parent haplogroup is BY3344, which looks to be weighted towards ancestors from Scotland, shown on the country card, below.

McNiel Big Y BY3344

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This suggests that the origins of the McNiel line was, perhaps, in Scotland, but it doesn’t tell us whether or not George and presumably, Thomas, immigrated from Ireland or Scotland.

This combined tree, with SNPs, surnames from Big Y matches, along with Country information, allows me to see who is really more closely related and who is further away.

What I didn’t do, and probably should, is to add in all of the STR matches who have taken the Big Y test, shown on their convergent branch – but that’s just beyond the scope of time I’m willing to invest, at least for now, given that hundreds of STR matches have taken the Big Y test, and the work of building the combined tree is all manual today.

For those reading this article without access to the Y phylogenetic tree, there’s a public version of the Y and mitochondrial phylotrees available, here.

What About Those McNiels?

No other known McNiel descendants from either Thomas or George have taken the Big Y test, so I didn’t expect any to match, but I am interested in other men by similar surnames. Does ANY other McNiel have a Big Y match?

As it turns out, there are two, plus one STR match who took a Big Y test, but is not a Big Y match.

However, as you can see on the combined match/block/haplotree, above, the closest other Big Y-matching McNeil male is found at about 19 SNP generations, or roughly 1900 years ago. Even if you remove some of the variants in the lower generations that are based on an average number of individual variants, you’re still about 1200 years in the past. It’s extremely doubtful that any surname would survive in both lines from the year 800 or so.

That McNeil tester’s ancestor was born in 1747 in Tranent, Scotland.

The second Big Y-matching person is an O’Neil, a few branches further up in the tree.

The convergent SNP of the two branches, meaning O’Neil and McNeill are at approximately the 21 generation level. The O’Neil man’s Neill ancestor is found in 1843 in Cookestown, County Tyrone, Ireland.

McNiel Big Y convergent McNeil lines

I created a spreadsheet showing convergent lines:

  • The McNeill man with haplogroup A4697 (ancestor Tranent, Scotland) is clearly closest genetically.
  • O’Neill BY91591, who is brother clades with Neel and Neal, all Irish, is another Big Y match.
  • The McNeill man with haplogroup FT91182 is an STR match, but not a Big Y match.

The convergent haplogroup of all of these men is DF105 at about the 22 SNP generation marker.

STRs

Let’s turn back to STR tests, with results that produce matches closer in time.

Searching my STR download spreadsheet for similar surnames, I discovered several surname matches, mining the Earliest Known Ancestor information, profiles and trees produced data as follows:

Ancestor STR Match Level Location
George Charles Neil 12, 25, match on Big Y A4697 1747-1814 Tranent, Scotland
Hugh McNeil 25 (tested at 67) Born 1800 Country Antrim, Northern Ireland
Duncan McNeill 12 (tested at 111) Married 1789, Argyllshire, Scotland
William McNeill 12, 25 (tested at 37) Blackbraes, Stirlingshire, Scotland
William McNiel 25 (tested at 67) Born 1832 Scotland
Patrick McNiel 25 (tested at 111) Trien East, County Roscommon, Ireland
Daniel McNeill 25 (tested at 67) Born 1764 Londonderry, Northern Ireland
McNeil 12 (tested at 67) 1800 Ireland
McNeill (2 matches) 25 (tested Big Y-  SNP FT91182) 1810, Antrim, Northern Ireland
Neal 25 – (tested Big Y, SNP BY146184) Antrim, Northern Ireland
Neel (2 matches) 67 (tested at 111, and Big Y) 1750 Ireland, Northern Ireland

Our best clue that includes a Big Y and STR match is a descendant of George Charles Neil born in Tranent, Scotland, in 1747.

Perhaps our second-best clue comes in the form of a 111 marker match to a descendant of one Thomas McNeil who appears in records as early as 1753 and died in 1761 In Rombout Precinct, Dutchess County, NY where his son John was born. This line and another match at a lower level both reportedly track back to early New Hampshire in the 1600s.

The MacNeil DNA Project tells us the following:

Participant 106370 descends from Isaiah McNeil b. 14 May 1786 Schaghticoke, Rensselaer Co. NY and d. 28 Aug 1855 Poughkeepsie, Dutchess Co., NY, who married Alida VanSchoonhoven.

Isaiah’s parents were John McNeal, baptized 21 Jun 1761 Rombout, Dutchess Co., NY, d. 15 Feb 1820 Stillwater, Saratoga Co., NY and Helena Van De Bogart.

John’s parents were Thomas McNeal, b.c. 1725, d. 14 Aug 1761 NY and Rachel Haff.

Thomas’s parents were John McNeal Jr., b. around 1700, d. 1762 Wallkill, Orange Co., NY (now Ulster Co. formed 1683) and Martha Borland.

John’s parents were John McNeal Sr. and ? From. It appears that John Sr. and his family were this participant’s first generation of Americans.

Searching this line on Ancestry, I discovered additional information that, if accurate, may be relevant. This lineage, if correct, and it may not be, possibly reaching back to Edinburgh, Scotland. While the information gathered from Ancestry trees is certainly not compelling in and of itself, it provides a place to begin research.

Unfortunately, based on matches shown on the MacNeil DNA Project public page, STR marker mutations for kits 30279, B78471 and 417040 when compared to others don’t aid in clustering or indicating which men might be related to this group more closely than others using line-marker mutations.

Matches Map

Let’s take a look at what the STR Matches Map tells us.

McNiel Big Y matches map menu

This 67 marker Matches Map shows the locations of the earliest known ancestors of STR matches who have entered location information.

McNiel Big Y matches mapMcNiel Big Y matches map legend

My McNeill cousin’s closest matches are scattered with no clear cluster pattern.

Unfortunately, there is no corresponding map for Big Y matches.

SNP Map

The SNP map provided under the Y DNA results allows testers to view the locations where specific haplogroups are found.

McNiel Big Y SNP map

The SNP map marks an area where at least two or more people have claimed their most distant known ancestor to be. The cluster size is the maximum amount of miles between people that is allowed in order for a marker indicating a cluster at a location to appear. So for example, the sample size is at least 2 people who have tested, and listed their most distant known ancestor, the cluster is the radius those two people can be found in. So, if you have 10 red dots, that means in 1000 miles there are 10 clusters of at least two people for that particular SNP. Note that these locations do NOT include people who have tested positive for downstream locations, although it does include people who have taken individual SNP tests.

Working my way from the McNiel haplogroup backward in time on the SNP map, neither BY18332 nor BY18350 have enough people who’ve tested, or they didn’t provide a location.

Moving to the next haplogroup up the tree, two clusters are formed for BY3344, shown below.

McNIel Big Y BY3344 map

S668, below.

McNiel Big Y S668 map

It’s interesting that one cluster includes Glasgow.

S673, below.

McNiel Big Y S673 map

DF85, below:

McNiel Big Y DF85 map

DF105 below:

McNiel BIg Y DF105 map

M222, below:

McNiel Big Y M222 map

For R-M222, I’ve cropped the locations beyond Ireland and Scotland. Clearly, RM222 is the most prevalent in Ireland, followed by Scotland. Wherever M222 originated, it has saturated Ireland and spread widely in Scotland as well.

R-M222

R-M222, the SNP initially thought to indicate Niall of the 9 Hostages, occurred roughly 25-59 SNP generations in the past. If this age is even remotely accurate, averaging by 80 years per generation often utilized for Big Y results, produces an age of 2000 – 4720 years. I find it extremely difficult to believe any semblance of a surname survived that long. Even if you reduce the time in the past to the historical narrative, roughly the year 400, 1600 years, I still have a difficult time believing the McNiel surname is a result of being a descendant of Niall of the 9 Hostages directly, although oral history does have staying power, especially in a clan setting where clan membership confers an advantage.

Surname or not, clearly, our line along with the others whom we match on the Big Y do descend from a prolific common ancestor. It’s very unlikely that the mutation occurred in Niall’s generation, and much more likely that other men carried M222 and shared a common ancestor with Niall at some point in the distant past.

McNiel Conclusion – Is There One?

If I had two McNiel wishes, they would be:

  • Finding records someplace in Virginia that connect George and presumably brothers Thomas and John to their parents.
  • A McNiel male from wherever our McNiel line originated becoming inspired to Y DNA test. Finding a male from the homeland might point the way to records in which I could potentially find baptismal records for George about 1720 and Thomas about 1724, along with possibly John, if he existed.

I remain hopeful for a McNiel from Edinburgh, or perhaps Glasgow.

I feel reasonably confident that our line originated genetically in Scotland. That likely precludes Niall of the 9 Hostages as a direct ancestor, but perhaps not. Certainly, one of his descendants could have crossed the channel to Scotland. Or, perhaps, our common ancestor is further back in time. Based on the maps, it’s clear that M222 saturates Ireland and is found widely in Scotland as well.

A great deal depends on the actual age of M222 and where it originated. Certainly, Niall had ancestors too, and the Ui Neill dynasty reaches further back, genetically, than their recorded history in Ireland. Given the density of M222 and spread, it’s very likely that M222 did, in fact, originate in Ireland or, alternatively, very early in Scotland and proliferated in Ireland.

If the Ui Neill dynasty was represented in the persona of the High King, Niall of the 9 Hostages, 1600 years ago, his M222 ancestors were clearly inhabiting Ireland earlier.

We may not be descended from Niall personally, but we are assuredly related to him, sharing a common ancestor sometime back in the prehistory of Ireland and Scotland. That man would sire most of the Irish men today and clearly, many Scots as well.

Our ancestors, whoever they were, were indeed in Ireland millennia ago. R-M222, our ancestor, was the ancestor of the Ui Neill dynasty and of our own Reverend George McNiel.

Our ancestors may have been at Knowth and New Grange, and yes, perhaps even at Tara.

Tara Niall mound in sun

Someplace in the mists of history, one man made a different choice, perhaps paddling across the channel, never to return, resulting in M222 descendants being found in Scotland. His descendants include our McNeil ancestors, who still slumber someplace, awaiting discovery.

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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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Y DNA: Part 2 – The Dictionary of DNA

After my introductory article, Y DNA: Part 1 – Overview, I received several questions about terminology, so this second article will be a dictionary or maybe more like a wiki. Many terms about Y DNA apply to mitochondrial and autosomal as well.

Haplogroup – think of your Y or mitochondrial DNA haplogroup as your genetic clan. Haplogroups are assigned based on SNPs, specific nucleotide mutations that change very occasionally. We don’t know exactly how often, but the general schools of thought are that a new SNP mutation on the Y chromosome occurs someplace between every 80 and 145 years. Of course, those would only be averages. I’ve as many as two mutations in a father son pair, and no mutations for many generations.

Dictionary haplogroup.png

Y DNA haplogroups are quite reliably predicted by STR results at Family Tree DNA, meaning the results of a 12, 25, 37, 67 or 111 marker tests. Haplogroups are only confirmed or expanded from the estimate by SNP testing of the Y chromosome. Predictions are almost always accurate, but only apply to the upper level base haplogroups. I wrote about that in the article, Haplogroups and the Three Brothers.

Haplogroups are also estimated by some companies, specifically 23andMe and LivingDNA who provide autosomal testing. These companies estimate Y and mitochondrial haplogroups by targeting certain haplogroup defining locations in your DNA, both Y and mitochondrial. That doesn’t mean they are actually obtaining Y and mtDNA information from autosomal DNA, just that the chip they are using for DNA processing targets a few Y and mitochondrial locations to be read.

Again, the only way to confirm or expand that haplogroup is to test either your Y or mitochondrial DNA directly. I wrote about that in the article Haplogroup Comparisons Between Family Tree DNA and 23andMe and Why Different Haplogroup Results?.

Nucleotide – DNA is comprised of 4 base nucleotides, abbreviated as T (Thymine), A (Adenine), C (Cytosine) and G (Guanine.) Every DNA address holds one nucleotide.

In the DNA double helix, generally, A pairs with T and C pairs with G.

Dictionary helix structure.png

Looking at this double helix twist, green and purple “ladder rungs” represent the 4 nucleotides. Purple and green and have been assigned to one bonding pair, either A/T or C/G, and red and blue have been assigned to the other pair.

When mutations occur, most often A or T are replaced with their paired nucleotide, as are C and G. In this example, A would be replaced with T and vice versa. C with G and vice versa.

Sometimes that’s not the case and a mutation occurs that pairs A with C or G, for example.

For Y DNA SNPs, we care THAT the mutation occurred, and the identity of the replacing nucleotide so we know if two men match on that SNP. These mutations are what make DNA in general, and Y DNA in particular useful for genealogy.

The rest of this nucleotide information is not something you really need to know, unless of course you’re playing in the jeopardy championship. (Yes, seriously.) The testing lab worries about these things, as well as matching/not matching, so you don’t need to.

SNP – Single nucleotide polymorphism, pronounced “snip.” A mutation that occurs when the nucleotide typically found at a particular location (the ancestral value) is replaced with one of the other three nucleotides (the derived value.) SNPs that mutate are called variants.

In Y DNA, after discovery and confirmation that the SNP mutation is valid and carried by more than one man, the mutation is given a name something like R-M269 where R is the base haplogroup and M269 reflects the lab that discovered and named the SNP (M = Peter Underhill at Stanford) and an additional number, generally the next incremental number named by that lab (269).

Some SNPs were discovered simultaneously by different labs. When that happens, the same mutation in the identical location is given different names by different organizations, resulting in multiple names for the name mutation in the same DNA location. These are considered equivalent SNPs because they are identical.

In some cases, SNPs in different locations seem to define the same tree branching structure. These are functionally equivalent until enough tests are taken to determine a new branching structure, but they are not equivalent in the sense that the exact same DNA location was named by two different labs.

Some confusion exists about Y DNA SNP equivalence.

Equivalence Confusion How This Happens Are They the Same?
Same exact DNA location named by two labs Different SNP names for the same DNA location, named by two different labs at about the same time Exactly equivalent because SNPs are named for the the exact same DNA locations, define only one tree branch ever
Different DNA locations and SNP names, one current tree branch Different SNPs temporarily located on same branch of  the tree because branches or branching structure have not yet been defined When enough men test, different branches will likely be sorted out for the non-equivalent SNPs pointing to newly defined branch locations that divide the tree or branch

Let’s look at an example where 4 example SNPs have been named. Two at the same location, and two more for two additional locations. However, initially, we don’t know how this tree actually looks, meaning what is the base/trunk and what are branches, so we need more tests to identify the actual structure.

Dictionary SNPs before branching.png

The example structure of a haplogroup R branch, above, shows that there are three actual SNP locations that have been named. Location 1 has been given two different SNP names, but they are the same exact location. Duplicate names are not intentionally given, but result from multiple labs making simultaneous discoveries.

However, because we don’t have enough information yet, meaning not enough men have tested that carry at least some of the mutations (variants,), we can’t yet define trunks and branches. Until we do, all 4 SNPs will be grouped together. Examples 1 and 2 will always be equivalent because they are simply different names for the exact same DNA location. Eventually, a branching structure will emerge for Examples 1/2, Example 3 and Example 4..

Dictionary SNP branches.png

Eventually, the downstream branches will be defined and split off. It’s also possible that Example 4 would be the trunk with Examples 1 and 2 forming a branch and Example 3 forming a branch. Branching tree structure can’t be built without sufficient testers who take the NGS tests, specifically the Big Y-700 which doesn’t just confirm a subset of existing named SNPs, but confirms all named SNPs, unnamed variants and discovers new previously-undiscovered variants which define the branching tree structure.

SNP testing occurs in multiple ways, including:

  • NGS, next generation sequencing, tests such as the Big Y-700 which scans the gold standard region of the Y chromosome in order to find known SNPs at specific locations, mutations (variants) not yet named as SNPs, previously undiscovered variants and minimally 700 STR mutations.
  • WGS, whole genome sequencing although there currently exist no bundled commercial tools to separate Y DNA information from the rest of the genome, nor any comparison methodology that allows whole genome information to be transferred to Family Tree DNA, the only commercial lab that does both testing and matching of NGS Y DNA tests and where most of the Y DNA tests reside. There can also be quality issues with whole genome sequencing if the genome is not scanned a similar number of times as the NGS Y tests. The criteria for what constitues a “positive call” for a mutation at a specific location varies as well, with little standardization within the industry.
  • Targeted SNP testing of a specific SNP location. Available at Family Tree DNA  and other labs for some SNP locations, this test would only be done if you are looking for something very specific and know what you are doing. In some cases, a tester will purchase one SNP to verify that they are in a particular lineage, but there is no benefit such as matching. Furthermore, matching on one SNP alone does not confirm a specific lineage. Not all SNPs are individually available for purchase. In fact, as more SNPs are discovered at an astronomical rate, most aren’t available to purchase separately.
  • SNP panels which test a series of SNPs within a certain haplogroup in order to determine if a tester belongs to a specific subclade. These tests only test known SNPs and aren’t tests of discovery, scanning the useable portion of the Y chromosome. In other words, you will discern whether you are or are not a member of the specific subclades being tested for, but you will not learn anything more such as matching to a different subclade, or new, undiscovered variants (mutations) or subclades.

Subclade – A branch of a specific upstream branch of the haplotree.

Dictionary R.png

For example, in haplogroup R, R1 and R2 are subclades of haplogroup R. The graphic above conveys the concept of a subclade. Haplogroups beneath R1 and R2, respectively, are also subclades of haplogroup R as well as subclades of all clades above them on the haplotree.

Older naming conventions used letter number conventions such as R1 and R2 which expanded to R1b1c and so forth, alternating letters and numbers.

Today, we see most haplogroups designated by the haplogroup letter and SNP name. Using that notation methodology, R would be R-M207, R1 would be R-M173 and R2 would be R-M479.

Dictionary R branches.png

ISOGG documents Y haplogroup naming conventions and their history, maintaining both an alphanumeric and SNP tree for backwards compatibility. The reason that the alphanumeric tree was obsoleted was because there was no way to split a haplogroup like R1b1c when a new branch appeared between R1b and R1b1 without renaming everything downstream of R1b, causing constant reshuffling and renaming of tree branches. Haplogroup names were becoming in excess of 20 characters long. Today, the terminal SNP is used as a person’s haplogroup designation. The SNP name never changes and the individual’s Y haplogroup only changes if:

  • Further testing is performed and the tester is discovered to have an additional mutation further downstream from their current terminal SNP
  • A SNP previously discovered using the Big Y NGS test has since been named because enough men were subsequently discovered to carry that mutation, and the newly named SNP is the tester’s terminal SNP

Terminal SNP – It’s really not fatal. Used in this context, “terminal” means end of line, meaning furthest down and closest to present in the haplotree.

Depending on what level of testing you’ve undergone, you may have different haplogroups, or SNPs, assigned as your official “end of line” haplogroup or “terminal SNP” at various times.

If you took any of the various STR panel tests (12, 25, 37, 67 or 111) at Family Tree DNA your SNP was predicted based on STR matches to other men. Let’s say that prediction is R-M198. At that time, R-M198 was your terminal SNP. If you took the Big Y-700 test, your terminal SNP would almost assuredly change to something much further downstream in the haplotree.

If you took an autosomal test, your haplogroup was predicted based on a panel of SNPs selected to be informative about Y or mitochondrial DNA haplogroups. As with predicted haplogroups from STR test panels, the only way to discover a more definitive haplogroup is with further testing.

If you took a Y DNA STR test, you can see by looking at your match list that other testers may have a variety of “terminal SNPs.”

Dictionary Y matches.png

In the above example, the tester was originally predicted as R-M198 but subsequently took a Big Y test. His haplogroup now is R-YP729, a subclade of R-M198 several branches downstream.

Looking at his Y DNA STR matches to view the haplogroups of his matches, we see that the Y DNA predicted or confirmed haplogroup is displayed in the Y-DNA Haplogroup column – and several other men are M198 as well.

Anyone who has taken any type of confirming SNP test, whether it’s an individual SNP test, a panel test or the Big Y has their confirmed haplogroup at that level of testing listed in the Terminal SNP column. What we don’t know and can’t tell is whether the men whose Terminal SNP is listed as R-M198 just tested that SNP or have undergone additional SNP testing downstream and tested negative for other downstream SNPs. We can tell if they have taken the Big Y test by looking at their tests taken, shown by the red arrows above.

If the haplogroup has been confirmed by any form of SNP testing, then the confirmed haplogroup is displayed under the column, “Terminal SNP.” Unfortunately, none of this testers’ matches at this STR marker level have taken the Big Y test. As expected, no one matches him on his Terminal SNP, meaning his SNP farthest down on the tree. To obtain that level of resolution, one would have to take the Big Y test and his matches have not.

Dictionary Y block tree.png

Looking at this tester’s Big Y Block Tree results, we can see that there are indeed 3 people that match him on his terminal SNP, but none of them match him on the STR tests which generally produce genealogical matches closer in time. This suggests that these haplogroup level matches are a result of an ancestor further back in time. Note that these men also have an average of 5 variants each that are currently unnamed. These may eventually be named and become baby branches.

SNP matches can be useful genealogically, depending on when they occurred, or can originate further back in time, perhaps before the advent of surnames.

Our tester’s paternal ancestors migrated from Germany to Hungary in the late 1700s or 1800s, settling in a region now in Croatia, but he’s brick-walled on his paternal line due to record loss during the various wars.

The block tree reveals that the tester’s Big Y SNP match is indeed from Germany, born in 1718, with other men carrying this same terminal SNP originating in both Hungary and Germany even though they aren’t shown as a STR marker match to our tester.

You can read more about the block tree in the article, Family Tree DNA’s New Big Y Block Tree.

Haplotype – your individual values for results of gene sequencing, such as SNPs or STR values tested in the 12, 25, 37, 67 and 111 marker panels at Family Tree DNA. The haplotype for the individual shown below would be 13 for location DYS393, 26 for location DYS390, 16 for location DYS19, and so forth.

Dictionary panel 1.png

The values in a haplotype tend to be inherited together, so they are “unique” to you and your family. In this case, the Y DNA STR values of 13, 26, 16 and 10 are generally inherited together (unless a new mutation occurs,) passed from father to son on the Y chromosome. Therefore, this person’s haplotype is 13, 26, 16 and 10 for these 4 markers.

If this haplotype is rare, it may be very unique to the family. If the haplotype is common, it may only be unique to a much larger haplogroup reaching back hundreds or thousands of years. The larger the haplotype, the more unique it tends to be.

STR – Short tandem repeat. I think of a short tandem repeat as a copy machine or a stutter error. On the Y chromosome, the value of 13 at the location DYS393 above indicates that a series of DNA nucleotides is repeated a total of 13 times.

Indel example 1

Starting with the above example, let’s see how STR values accrue mutations.

STR example

In the example above, the value of CT was repeated 4 times in this DNA sequence, for a total of 5, so 5 would be the marker value.

Indel example 3

DNA can have deletions where the DNA at one or more locations is deleted and no DNA is found at that location, like the missing A above.

DNA can also have insertions where a particular value is inserted one or more times.

Dictionary insertion example.png

For example, if we know to expect the above values at DNA locations 1-10, and an insertion occurs between location 3 and 4, we know that insertion occurred because the alignment of the pattern of values expected in locations 4-10 is off by 1, and an unexpected T is found between 3 and 4, which I’ve labeled 3.1.

Dictionary insertion example 1.png

STR, or copy mutations are different from insertions, deletions or SNP mutations, shown below, where one SNP value is actually changed to another nucleotide.

Indel example 2

Haplotree – the SNP trees of humanity. Just a few years ago, we thought that there were only a few branches on the Y and mitochondrial trees of humanity, but the Big Y test has been a game changer for Y DNA.

At the end of 2019, the tree originating in Africa with Y chromosome Adam whose descendants populated the earth is comprised of more than 217,277 variants divided into 24,838 individual Y haplotree branches

A tree this size is very difficult to visualize, but you can take a look at Family Tree DNA’s public Y DNA tree here, beginning with haplogroup A. Today, there 25,880 branches, increased by more than 1000 branches in less than 3 weeks since year end. This tree is growing at breakneck speed as more men take the Big Y-700 test and new SNPs are discovered.

On the Public Y Tree below, as you expand each haplogroup into subgroups, you’ll see the flags representing the locations of where the testers’ most distant paternal ancestor lived.

Dictionary public tree.png

I wrote about how to use the Y tree in the article Family Tree DNA’s PUBLIC Y DNA Haplotree.

The mitochondrial tree can be viewed here. I wrote about to use the mitochondrial tree in the article Family Tree DNA’s Mitochondrial Haplotree.

Need Something Else?

I’ll be introducing more concepts and terms in future articles on the various Y DNA features. In the mean time, be sure to use the search box located in the upper right-hand corner of the blog to search for any term.

DNAexplain search box.png

For example, want to know what Genetic Distance means for either Y or mitochondrial DNA? Just type “genetic distance” into the search box, minus the quote marks, and press enter.

Enjoy and stay tuned for Part 3 in the Y DNA series, coming soon.

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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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FamilyTreeDNA Thanksgiving Sale + New Comprehensive Health Report

FTDNA Thanksgiving.png

FamilyTreeDNA’s Thanksgiving Sale has begun. Almost everything is on sale. I don’t know about you, but I like to have all of my holiday planning and purchasing DONE before Thanksgiving. Some of the gifts I wanted for people this year are already sold out or backordered – but DNA testing is always available. The gift of history, and now of health too.

I wrote about the Big Y test and upgrades just a couple days ago, here, including the restructuring of the Big Y product resulting in a permanent $100 dollar reduction, in addition to sale prices.

FamilyTreeDNA has made a few product changes and introduced the new Tovana Health test. (Update – Note that the Tovana test is no longer offered.)

I’ve included a special section of frequently asked questions (and answers) about tests and when upgrading does, and doesn’t, make sense.

Individual Tests

Let’s start with the sale prices for individual tests.

Test Sale Price Regular Price Savings
Family Finder (FF) $59 $79 $20
Y DNA 37 $99 $169 $70
Y DNA 111 *1 $199 $359 $160
Big Y-700 *2 $399 $649 $250
Mitochondrial Full Sequence *3 $139 $199 $60

*1 – You may notice that only the 37-marker and 111-marker tests are listed above. The 111-marker test was reduced to the 67-marker sale price, so, at least during the sale, the 67-marker test is not available. In other words, you get 111 markers for the price of 67.

*2 – The Big Y-700 test includes the Y 111 test plus another 589 STR markers (to equal or exceed 700 markers total) plus the SNP testing. You can read about the Big Y here.

*3 – The mitochondrial full sequence (FMS) aka mtFullSequence test is now the only mitochondrial DNA test available. I’m glad to see this change. The price of the mtFullSequence test has now dropped to the level of the less specific partial tests of yesteryear. Genealogists really need the granularity of the full test.

Bundles save even more – an additional $9 over purchasing the bundled items separately

Bundles

Test Sale Price Regular Price Savings
Family Finder + mtFullSequence $189 $278 $89
Family Finder + Y-37 $149 $248 $188
Family Finder + Y111 $249 $438 $189
Y-37 + mtFullSequence $229 $368 $139
Y-111 + mtFullSequence $329 $558 $229
Family Finder + Y-37 + mtFull $279 $447 $170
Family Finder + Y-111 + mtFull $379 $637 $258

When Does Upgrading Make Sense?

Y DNA Q&A

Q – If I have several Y DNA matches, will upgrading help?

A – If you need more specific or granular information to tease your line out of several matches – upgrading will help refine your matches and determine who is a closer match, assuming some of your matches have tested at a higher level.

Q – If I have tested at a lower level of STR markers and have no matches, will I have matches at a higher level?

A – Sometimes, but not usually. If your mutations just happen to fall in the lower panels, you may have matches on higher panels that allow for more mutations. If you do have matches on a higher test in this circumstance, the person may or may not have your surname. You can also join haplogroup and surname projects where thresholds are slightly lower for matching within projects.

If you don’t test, you’ll never know.

Q – If I have no matches on STR markers, meaning 12, 25, 37, 67 or 111, will upgrading to the Big Y be beneficial?

A – Possibly to probably – and here’s why, even if you don’t initially have matches:

  • The Big Y-700 provides multiple tools including matches at the SNP level, not just the STR level, so you are matched in two entirely different ways.
  • You may have same-surname matches at the SNP level that you do not have at the STR level which are further back in time, but still valuable and relevant to your family history.
  • You may have SNP matches that aren’t STR matches that are not your surname, but reflect your family history before the advent of surnames. These matches can tell you where your family came from before you can locate them in records. In fact, this is the ONLY way you can track your family before the advent of surnames.
  • Even if you don’t have matches, you’ll receive all of your SNP markers that allow you to view your results on the Block Tree, which is in essence a migration map back through time. You can read about the Block Tree here.
  • Your test contributes to building the phylotree – meaning the Y DNA tree of man – which benefits all genealogists. In just the first 10 months of 2019, 32,000 new SNPs have been placed on the tree, resulting in about 5,000 new individual branches. All because of Big Y-700
  • New people test every day and your DNA tests fish for you every minute of every day.

Mitochondrial DNA Q&A

If you’ve previously taken lower level mitochondrial HVR1 and HVR2 tests, now is the perfect time to upgrade.

Q – I have 5,000 <or fill in large number here> HVR1 level matches. Will upgrading reduce the number of matches to those that are more meaningful?

A – Absolutely! Your most genealogically relevant matches, meaning closest in time, are those that match you exactly at the full sequence level.

Q – I don’t know where my ancestor was from. Can a full sequence test help me?

A – Yes. You can use the Matches Map and see where the ancestors of your closest matches were from. That’s a huge hint. You can also utilize your haplogroup, which, in some instances, will point to a specific continent such as Africa, Europe, Asia or Native American and Jewish populations.

Q – If I have no matches at the HVR1 or HVR2 level? Will an upgrade help me?

A – Possibly. Both the HVR1 and HVR2 (now obsolete) tests only allowed for one mutation difference to be considered a match. The full sequence allows for many more differences. If you were unlucky and your mutations just happened to fall in the HVR1 or HVR2 levels, it would prevent a match which will occur at a higher level. Either way, you’ll receive information about your rare mutations – which may well explain why you don’t have matches (yet)! You’ll also receive a full haplogroup which will be useful, allowing you to use the mitochondrial haplotree to track back in time, which I wrote about here.

There are so many ways to obtain useful information. I wrote a step-by-step guide to using mitochondrial DNA, here.

Upgrade Options

Please note that if you are considering an upgrade, it maybe beneficial to upgrade to the maximum test available for either the Y or mitochondrial DNA, especially if you cannot obtain more of the sample. Of course, if it’s your own sample, you can always swab again, but others can’t.

Every time a vial is opened for testing, more DNA is used, until there is none left. Additionally, DNA degrades with time, depending on the quality of the original scraping and the amount of bacteria in the sample. Generally, the sample is viable for at least 5 years, but not always. Some older samples remain viable for many years. There’s no way to know in advance.

Test Sale Price Regular Price Savings
Y-12 to Y-37 $79 $109 $30
Y-12 to Y-67 $149 $199 $50
Y-12 to Y-111 $169 $359 $190
Y-25 to Y-37 $49 $59 $10
Y-25 to Y-67 $119 $159 $40
Y-25 to Y-111 $149 $269 $120
Y-37 to Y-67 $69 $109 $40
Y-37 to Y-111 $119 $228 $109
Y-67 to Y-111 $69 $99 $30
Y-12 to Big Y-700 $359 $629 $270
Y-25 to Big Y-700 $349 $599 $250
Y-37 to Big Y-700 $319 $569 $250
Y-67 to Big Y-700 $259 $499 $240
Y-111 to Big Y-700 $229 $499 $270
Big Y-500 to Big Y-700 $189 $249 $60
HVR1 to mtFullSequence $99 $159 $60
mtDNA Plus to mtFullSequence $99 $159 $60

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