2018 June – Chromosome Mapping

Chromosome Mapping

Coordinator/Instructor: Karen Stanbary, MA, CG

Additional Instructor: Blaine Bettinger, JD, PhD

Held June 24-29, 2018, at La Roche College, Pittsburgh, PA. Registration Information.

Course Description:

“Chromosome Mapping” is designed for genealogists who have completed beginning DNA courses and wish to bring their research to the next level. The focus of this advanced course is to assist the students to map their autosomal DNA, determining the specific ancestors who contributed to the participants own DNA, segment by segment. An integral component of this course is visual phasing, a technique to map the crossover points of a group of three siblings which facilitates the reconstruct of their grandparents genome. Participants will leave the course with atDNA analysis software installed with their own data and the skills needed for continuing analysis.

 

Audience:

  • Those well-versed in traditional genealogical research and well informed about DNA inheritance for genealogical problem solving.
  • Those who wish to use autosomal DNA information to blast through genealogical brick walls.
  • This course does not duplicate, but rather is complementary to the current Advanced DNA course offered by CeCe Moore at GRIP.

Prerequisites:

Participants are required have an autosomal DNA study group with multiple test results from a family group with at least some of the following relationships: parents, siblings, first and second cousins, aunts/uncles. The participants must have tested autosomal DNA with at least two of the major testing companies:  23andMe, FTDNA, AncestryDNA. We expect that the participants have uploaded the tests to GEDmatch. It is recommended that at least one of the kits was tested at 23andMe for the unique ethnicity results that company provides. Visual phasing requires a group of three siblings with kits uploaded to GEDmatch.

While specific previous DNA institute courses are not required, it is recommend the participants work through the exercises in Genetic Genealogy in Practice with Debbie Parker Wayne (Arlington, Va.: National Genealogical Society, 2016) and studied the answers prior to the institute.  The focus will be on chromosome mapping of autosomal DNA test results. We will not cover beginning DNA topics, including inheritance patterns.

Participants will need a fully functional laptop (not a Chromebook, nor tablet) and the ability to use the operating system and work through complex file management without instruction. This is a fast-paced course.  There will not be time to assist participants with technical computer issues.

Genome Mate Pro is a free software that will be required from all participants. Additionally, the participants will need to have an updated version of Excel installed in their laptops.

Participants are asked to bring at least one, and up to three, research questions that would benefit from DNA information considered as evidence. Please summarize the documentary evidence already collected to answer the research question.

 

Detailed Course Schedule:

MONDAY: Organizing Framework

The Genealogical Proof Standard (Stanbary)
We will begin with a review of the five elements of the Genealogical Proof Standard.  Then we will consider DNA information specifically within the framework of the GPS.  We will review the trend for inclusion of DNA information as part of Reasonably Exhaustive Research. We will provide the participants with an assessment tool to analyze DNA evidence confirmation of their previously researched ancestral lines.  We will also provide an assessment to assess the accuracy and depth of each generational connection on their own pedigrees.

GEDmatch (Bettinger)
An overview of the many tools available through GEDmatch that will assist with chromosome mapping. This will include an in-depth introduction to the use of the chromosome painting tools for biogeographical estimates.

Genome Mate Pro (Stanbary) TWO SESSIONS
Genome Mate Pro is a free software used to analyze autosomal DNA test results.  It is a challenging software and new users often experience frustration inputting all the files correctly.  We will walk the participants through the steps to get Genome Mate Pro up and running.  This is a hands-on workshop with the participants using their own laptops.  This session requires Wi-Fi.  The expectation is that participants will learn the basics and continue to work on the installation throughout the week.  The participants will be provided with a user-friendly step-by-step checklist to assist them in the process. If the participant arrives with Genome Mate Pro software already installed, they will use this lab time to update the files.

4:00 PM: SUPPLEMENTAL SESSION (Stanbary) Introduction to the Pedigree Analysis worksheet. This exercise will lay the groundwork for the confirmation of ancestral lines using second and third cousin matches.

Homework:

  • Begin to install Genome Mate Pro, Create Profiles and Import files.
  • Complete Pedigree Analysis to determine confirmed ancestral lines with DNA.
  • Complete assessment of accuracy and depth of your documented pedigree.
  • Review and revise research questions, as appropriate.

TUESDAY:  Mapping the Known

SUPPLEMENTAL SESSION (Stanbary/Bettinger)
Bring in your top research question and refine in small groups.

Genome Mate Pro (Stanbary) TWO SESSIONS
An overview of the many features of Genome Mate Pro. Participants will follow along with their own installed database. A scavenger hunt will be provided designed to help them delve into the details of their own data. Show them how to merge ancestry kits with associated GEDmatch kits.

Genome Mate Pro (Stanbary)
We will demonstrate how to map segments for confirmed ancestral couples. Using Genome Mate Pro, we will walk through several case studies that illustrate autosomal DNA analysis designed to assign a specific chromosomal segment to the Most Recent Common Ancestral Couple.  The Genealogical Proof Standard is stressed, including correlation with documentary evidence.

Genome Mate Pro Lab (Stanbary)
Open lab for participants to work on their own data. Emphasis will be on recording analysis and reasoning within GMP.

Homework: Map confirmed segments in GMP

WEDNESDAY: Visual Phasing

Recombination/Triangulation (Bettinger)
An advanced lecture focusing on the process of recombination and its implication for chromosome mapping.  An overview of the identification, analysis and marking of triangulated groups. Emphasis will be on achievement of knowledge to manage assumptions used in analysis.

Introduction to the Technique (Bettinger)
Participants will be introduced to the advanced technique of visual phasing. This powerful technique uses the segment information from three siblings to reconstruct the genomes of their grandparents.  Pitfalls and common mistakes will be included.

Visual Phasing Case Examples (Bettinger) two hours
We will use live case examples from the students to demonstrate the technique.

SUPPLEMENTAL SESSION (Bettinger) Introduce the chromosome exercise to be completed as homework.

Homework:

  • Visually phase provided chromosome exercise and participants’ own X.
  • Complete X-chromosome match chart

THURSDAY:

SUPPLEMENTAL SESSION (Bettinger) Review homework.

Visual Phasing Lab (Bettinger/Stanbary) Participants will continue to visually phase their own data.

Visual Phasing Lab Problems and Solutions (Bettinger/Stanbary)
Using participants own challenges, the instructors will provide a live demonstration of how to visually phase the troublesome chromosome. Show technique to use GMP to solve the problem.

Incorporation of Visual Phasing Data into GMP (Stanbary)
A demonstration of recording visual phasing data as tags within GMP.  Participants will tag their own groups in GMP, allowing them to mark and assign hypothesized ancestral lines to triangulated groups.

Lab:  Incorporation of Visual Phasing Data into GMP (Stanbary / Bettinger) Participants continue to work with own data.

FRIDAY: Application

SUPPLEMENTAL SESSION:  Open Lab (Stanbary/Bettinger)

Case Study:  How Visual Phasing Helped to Solve Genealogical Brick Walls and the Threshold for Proof (Stanbary/Bettinger)
We will present one or more case studies demonstrating the incorporation of visual phasing as evidence to solve genealogical problems.  The emphasis will be on the GPS and the threshold required for proof.

Communication of Analysis in Written Proof Arguments (Stanbary)
Various strategies for assembling complex evidence incorporating visual phasing into written proof arguments.  Participants will draft paragraphs summarizing evidence collected during the week.

Wrap-Up and Certificates

 

INSTRUCTOR BIOGRAPHIES

Karen Stanbary, MA, CG, is a professional genetic genealogist.  She is a regular instructor in Beginning Genetic Genealogy, Advanced Genetic Genealogy and Proving Your Pedigree (Genealogical Proof Standard) for the Newberry Library in Chicago.  She lectures on a variety of DNA topics in institutes and local and national venues.  She specializes in Midwestern U.S. research, Chicago-based research, Mexican research, complex problem-solving and DNA analysis.

Blaine Bettinger, Ph.D., J.D., is an intellectual property attorney by day and a DNA specialist by night. In 2007 he started The Genetic Genealogist (www.thegeneticgenealogist.com), one of the earliest blogs on the topic. He is the author of The Family Tree Guide to DNA Testing and Genetic Genealogy, and co-author with Debbie Parker Wayne of the award-winning Genetic Genealogy in Practice, the world’s first genetic genealogy workbook. Blaine is or has been an instructor for genetic genealogy courses at Excelsior College, the Institute of Genealogy and Historical Research (IGHR), Salt Lake Institute of Genealogy (SLIG), Genealogical Research Institute of Pittsburgh (GRIP), Virtual Institute of Genealogical Research, and Family Tree University. Blaine is a graduate of ProGen Study Group 21, a trustee for the New York Genealogical and Biographical Society’s Board of Trustees, and a board member for the Association of Professional Genealogists.