2018 July – Practical Genetic Genealogy

PRACTICAL GENETIC GENEALOGY

Course Coordinator: Blaine Bettinger, Ph.D., J.D.

Instructors: Blaine Bettinger, Ph.D., J.D.; Patti Hobbs, CG; Thomas W. Jones, Ph.D., CG, CGL, FASG, Karen Stanbary, CG; CeCe Moore

Held July 22-27, 2018, at La Roche College, Pittsburgh, PA. Registration Information.

PRE-READING: These texts are not required for the course, but students may benefit more from the course if they are already familiar with the concepts and/or techniques covered in one or more of these publications:

Bettinger, Blaine T. and Debbie Parker Wayne, Genetic Genealogy in Practice. Arlington, Va.: National Genealogical Society, 2016. With 75+ hands-on exercises, this book will help you reinforce the concepts you learn in the course.

Bettinger, Blaine T., The Family Tree Guide to DNA Testing and Genetic Genealogy. Cincinnati, Ohio: Family Tree Books, 2016.

Older Books (may not be up-to-date):

  • Aulicino, Emily D. Genetic Genealogy: The Basics and Beyond. Bloomington, Ind.: AuthorHouse, 2013.
  • Dowell, David R. NextGen Genealogy: The DNA Connection. n.p.: Libraries Unlimited, 2014.
  • Kennett, Debbie. DNA and Social Networking: A Guide to Genealogy in the Twenty-first Century. Gloucestershire, UK: The History Press, 2011.
  • Smolenyak, Megan Smolenyak and Ann Turner. Trace Your Roots with DNA. Emmaus, Penn., Rodale Press, 2004.

In addition to the books above, the following provide insight into the use of DNA to identify family:

  • Griffeth, Bill. The Stranger in My Genes: A Memoir Hardcover. Boston, Mass.: New England Historic Genealogical Society, 2016.
  • Hill, Richard. Finding Family: My Search for Roots and the Secrets in My DNA. n.p.: self-published, 2012.

Schedule will include the below in roughly the following order, subject to change. See lecture descriptions below for a full description of each lecture. Company differences on test and tool offerings are discussed in individual sessions where the topic fits logically. New tools frequently become available. This schedule may be adjusted as needed to cover important new tools that become available before the course dates.

MONDAY

8:30 AM Welcome, Introduction to DNA (Bettinger) This session introduces the course, the objectives, and student activities. Basic DNA inheritance patterns are described in an easy-to-understand way to lay a foundation for later sessions. Inheritance of all four types of DNA are covered: Y (direct paternal line), X (unique inheritance for males and females), mitochondrial (direct maternal line), and autosomal (inherited from all ancestral lines).

10:15 AM Introduction to Y-DNA Basics (Hobbs) Y-DNA inheritance patterns are reviewed with tips on choosing who should be tested. The difference between Y-STR and Y-SNP testing is explained, along with tips for knowing when to take which type of test. Examples demonstrate the use of Y-DNA to analyze whether results support or refute a common ancestor, whether a specific ethnicity may be present in the direct paternal line, how to determine when additional testing is indicated, and analysis of fast- and slow-mutating markers.

1:00 PM Introduction to mtDNA (Hobbs) Mitochondrial DNA inheritance patterns are reviewed with tips on choosing who should be tested. Case studies demonstrate the use of mtDNA to analyze whether results support or refute a common ancestor, whether a specific ethnicity may be present in the direct maternal line, and the differences between Y-DNA and mtDNA as a tool to find cousins in the testing company database.

2:45 PM Introduction to atDNA (Hobbs) Autosomal DNA inheritance patterns are reviewed with tips on choosing who should be tested, along with some of the applications of atDNA. Case studies will demonstrate the use of atDNA results to support or refute a common ancestor, how far back in time the common ancestor may be, and other applications of atDNA. Commonly used terms will be defined.

TUESDAY

8:30 AM Limitations of atDNA (Bettinger) In this session we will examine some of the most common atDNA pitfalls, including the use of small segments, the age of shared segments, issues of pedigree collapse and endogamy, Tree Completeness, and other issues that must be considered when utilizing atDNA tests results as evidence in a genealogical conclusion.

10:15 AM atDNA Company Tools (Stanbary) This session analyzes the company interfaces, as well as the most important autosomal DNA tools offered by the testing companies (including shared matches and ICW tools, chromosome browsers, and more). Detailed step-by-step procedures for analysis will be discussed, as will examples of analyzing autosomal DNA results using company tools.

1:00 PM Introduction to X-DNA (Stanbary) X-DNA inheritance patterns are reviewed with tips on choosing who should be tested, as well as X-DNA limitations and analysis. Case studies demonstrate the use of X-DNA to examine whether results support or refute a common ancestor.

2:45 PM Introduction to GEDmatch (Bettinger) This session introduces students to the most popular third-party tool, GEDmatch. In this session we will learn about the following GEDmatch tools: (i) One-to-Many Matches (including the advanced Tier 1 version); (ii) One-to-One Compare; (iii) X One-to-One; (iv) Admixture; (v) People Who Match One or Both of 2 Kits; and (vi) DNA File Diagnostic Utility. We will look at one or two examples using these tools to shed light on genealogical questions.

WEDNESDAY

8:30 AM Advanced GEDmatch (Bettinger) In this session we will learn about some of the following advanced GEDmatch tools: (i) Phasing; (ii) Are Your Parents Related?; (iii) Matching Segment Search; (iv) Lazarus; (v) Triangulation; and (vi) My Evil Twin. We will look at one or two examples using these tools to shed light on genealogical questions.

10:15 AM Introduction to DNAGedcom (Hobbs) In this session we will learn about the popular third-party tool DNAGedcom (www.DNAGedcom.com), including how to upload data to DNAGedcom, and how to analyze that data to answer genealogical questions. We will also examine how to use the DNAGedcom client to download data from the testing companies.

1:00 PM Introduction to GenomeMate Pro (Stanbary) This session introduces students to GenomeMate Pro (GMP). Given the significant amount of time needed to generate profiles in GMP, we will not be able to do so together in class. However, this session will introduce students to the applications available in GMP, and students will be provided detailed instructions to create their own GMP database with their own data.

2:45 PM Introduction to Visual Phasing (Bettinger) In this session we will learn about visual phasing, an advanced methodology that phases the DNA of a set of siblings into the four grandparent’s chromosomal segments.

THURSDAY

8:30 AM Unknown Parentage (Moore) This session demonstrates how to use the techniques already covered for cases such as adoption and other brick walls where little or nothing is known of the ancestral origins of the DNA testers.

10:15 AM Biogeographical Analysis (Moore) This session examines the methods by which biogeographical estimates are generated by the testing companies. We will examine some of the limitations and benefits of biogeographical estimates, including how they can be used for genealogical research.

1:00 PM Privacy and Ethics (Bettinger) This session includes discussions on cultural attitudes to DNA testing, privacy, and ethical issues every genealogist should consider before sharing genetic information.

2:45 PM Writing About and Citing DNA Tests Results (T. Jones) Using published case studies as examples, this session focuses on integrating—graphically and in words—DNA and documentary evidence in articles, family histories, and other genealogical writing. It addresses issues of explaining, showing, and citing DNA test results, living people’s lineages, and DNA-related resources.

FRIDAY

8:30 AM DNA and the Genealogical Proof Standard Project (Stanbary) When should you consider DNA evidence? How important is DNA evidence to your genealogical research? DNA alone can prove two people are related, but cannot prove who the common ancestor is or what the exact relationship is. DNA will not be useful as evidence for every genealogical research question, while for others DNA evidence will be bedrock upon which a soundly reasoned, coherently written conclusion rests.

10:30 AM The Future of Genetic Genealogy (Bettinger) This session explores the future of genetic genealogy. We’ll learn how genetic information might be used in the future, including to create entire or partial family trees based solely on DNA test results. We will also examine how these recreated genomes might be used to generate the faces and health of ancestors who have been dead for hundreds of years

11:30 AM Course Wrap-Up and Certificates before Lunch

Daily Exercises: Each day ends with hands-on exercises to be completed by students. Each includes a genealogical tree and a research goal discussed in class; student determines who to test, which test to perform, initial conclusion based on given findings. Exercises include discussion of projects to correlate documentary evidence from traditional research with DNA test results (Y-DNA, mtDNA, atDNA, and X-DNA).