Using Autosomal DNA to Explore Your Ancestry. Blaine T. Bettinger November 16, 2013

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1 Using Autosomal DNA to Explore Your Ancestry Blaine T. Bettinger November 16, 2013

2 Using Autosomal DNA to Explore Your Ancestry - Blaine T. Bettinger Provided only to members of the Western New York Genealogical Society (WNYGS) - Please do not share, modify, or distribute without permission from the author. For more information: - The Genetic Genealogist - 23andMe - Family Tree DNA - AncestryDNA - Trace Your Roots with DNA: Using Genetic Tests to Explore Your Family Tree by Megan Smolenyak Smolenyak and Ann Turner

3 Autosomal DNA and My Great- Grandmother s Mystery Helen Marley Johnson - b. 3 March 1889 in Mexico, NY - d. 26 Feb in Watertown, NY - Parents?

4 Autosomal DNA and My Great- Grandmother s Mystery

5 Blueprint for life DNA 23 pairs of chromosomes: o 22 pair of autosomal DNA o 1 pair of sex chromosomes Mitochondrial DNA mtdna

6 Types of Genetic Genealogy Y-DNA (the Y-chromosome) mtdna (the mitochondrial genome) Autosomal DNA (the non-sex chromosomes) X-DNA (the X-chromosome)

7 Y-DNA and mtdna tests ignore 95% of the DNA in the cell: mtdna

8 Autosomal DNA

9 The surname follows the Y-DNA! Inheritance of Y-DNA

10 Inheritance of mtdna The mtdna travels down the maternal line!

11 Me

12 Your Genetic Family Tree You have BOTH a genealogical family tree and a genetic family tree: Genealogical Tree - contains all of your ancestors Genetic Tree - contains a tiny fraction of your ancestors (only those ancestors that randomly contributed to your DNA)

13 128 ancestors at 7 generations

14 <<<128 ancestors at 7 generations

15 Graham Coop, Ph.D.

16 Your Genetic Family Tree Genetic Tree: - At 7-9 generations, genealogical ancestors fall off the Genetic Tree - Only about 475 of 1024 ancestors (or 46%) at 10 generations! - The majority of your ancestors did NOT contribute to your DNA! (Thank you to Luke Jostins and Graham Coop)

17

18 Your Autosomal DNA Genetic Tree: - Since your genetic tree is randomly inherited from your parents, even siblings will have different genetic trees! - (except identical twins)

19 Significant contributions to Genealogical Tree can be missing from your Genetic Tree:

20 Significant contributions to Genealogical Tree can be missing from your Genetic Tree: Graham Coop, Ph.D.

21 Why Test?

22 Why Test? Reason #1: Biogeographical Estimates

23 Biogeographical Estimates» Aka Ethnicity» Proprietary algorithms match segments of your DNA to reference populations from all around the world» Results are reported as percentages of DNA that aligns with each of the reference populations

24 Biogeographical Estimates 10% 10% 90% Result = AA 90%

25

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27 Companies Differ!

28 Estimates Change!

29 Estimates Change!

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32 Biogeographical Estimates The Bottom Line: - Companies use different methods to derive estimates so estimates differ - Companies refine the methods used to derive estimates so estimates change - Don t take your estimate to the bank

33 Why Test? Reason #2: Finding Genetic Cousins

34 Yes, You Share DNA With Your Family

35 Finding Genetic Cousins Company compares your DNA to the DNA of all other test-takers in the database Predicted cousins are identified Relationship Range is provided based on factors such as:» Total % of DNA shared» Size of segments shared

36 Good News!

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43 Finding Genetic Cousins How reliable are relationship predictions or ranges? VERY reliable through 3 rd or 4 th cousins Difficult to predict a 5 th cousin versus a 10 th cousin (since both will share so little DNA)

44 What is the probability that my relative and I share enough DNA to be detected by DNA Testing?

45 I have a match, now what? Step 1 review the match s profile for surnames and other information Step 2 contact the match and ask if willing to share a family tree or have one online Step 3 compare family trees (names, dates, locations, etc) Step 4 identify potential common ancestors

46 Why Test? Reason #3: Health Information

47 Risks and Inherited Conditions

48 Decreased Risks

49 Traits and Drug Response

50 Health Information Can be very small risks Not deterministic (not GATTACA) The science is always changing with new research and developments GINA

51 Why Test? Reason #4: To Solve Genealogical Mysteries

52 Autosomal DNA and My Great- Grandmother s Mystery Helen Marley Johnson - b. 3 March 1889 in Mexico, NY - d. 26 Feb in Watertown, NY - Parents?

53 Autosomal DNA and My Great- Grandmother s Mystery mtdna was not helpful Can I use autosomal DNA to identify Helen s parents?

54 Autosomal DNA and My Great- Grandmother s Mystery

55 First Cousins Any shared DNA will have come from Helen and her husband!

56 Testing Procedure Use the living to recreate a lost genome: Test my father s autosomal DNA (grandchild of Helen) Test Living Walton s DNA (grandchild of Helen) Find shared DNA

57 These shared stretches of DNA were shared by siblings Roy and Esther Bettinger (from their parents) and were passed down to the next generation

58 Autosomal DNA and My Great- Grandmother s Mystery I ve identified DNA from Helen and Frank, now what? Identify shared relatives Explore shared relatives genealogies Look for clues as to Helen s ancestry Johnson surname? Located in the Oswego Co, NY area?

59 Autosomal DNA and My Great- Grandmother s Mystery The In Common With Tool:

60 Autosomal DNA and My Great- It works! Grandmother s Mystery But

61 Autosomal DNA Summary Key Points: Everyone has a Genealogical Tree AND a Genetic Tree! Useful for: - Biogeographical estimates - Identifying genetic relatives - Attacking mysteries

62 Testing Companies $99 (Autosomal, Y-DNA and mtdna SNPs) (& medical!) $99 (Autosomal DNA) $99 for Ancestry.com subscribers (Autosomal DNA only) $ (Autosomal DNA) Free $100 Restaurant.com Gift Card (until 12/31/13?)

63 Quick and painless:

64 Issues to Consider A test will not return a complete family tree (yet!) Only examines a small percentage of your genealogy (1024 ancestors at 10 generations) DNA can reveal long-hidden secrets NPEs (adoption, infidelity, name change, etc)

65 Questions?

Some ancestors are difficult to trace. Adoptions illegitimacies, name changes and migrations can present brick walls in our research that seem

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