Teesdale U3A

Genealogy Group

Genetic

Genealogy

Using your test results

Genetic Genealogy – Using your

test results

The raw test results are not ‘user-friendly’:-

Your atDNA test results

RSID – The RSID column provides the RS number for the SNP in the

NIH dbSNP database.

CHROMOSOME – The CHROMOSOME column provides the name

of the chromosome where the SNP is located. For an autosomal file,

that is 1 through 22. For an X-chromosome file, that is X.

POSITION – The POSITION column provides the specific location

on the specified chromosome of the SNP.

RESULT – The RESULT column provides the allele values for the

SNP.

Your Y-DNA test results

Your mtDNA test results

Genetic Genealogy – Using your test

results

The test companies attempt to present the

results in more useable fashion using their

scientific knowledge and applying

algorithms to the test results.

Using Your DNA test results

Ethnicity

Health

Genealogy research

Ethnicity

Some SNP sequences within the genome

are characteristic of the existing

population in a given region.

The strength of the match of your atDNA

overall to different regions is used by the

testing company to infer your ethnicity.

Genetic Genealogy – Using your test

results

A project tested the DNA of a sample of British individuals all of whose grandparents lived in the same locality.

The project found that the DNA test results grouped into regions which matched tribal boundaries from 600AD

The secret history of the United Kingdom –

written in our genes

600 A.D.

Genetic Genealogy – Using your test

results Another project looked at individuals

from Europe.

The second slide shows how the

algorithms used sorted the results into

groups that were clearly related to the

geographical locations of the tested

individuals.

Genetic Structure of Europeans

Genetic Structure of Europeans

Genetic Genealogy – Using your test

results Genetic Structure of Europeans: A View from the North–East

Using principal component (PC) analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (SNPs) genotyped with the Illumina Infinium platform. In cohorts where the sample size was >100, one hundred randomly chosen samples were used for analysis to minimize the sample size effect, resulting in a total of 1,564 samples. This analysis revealed that the genetic structure of the European population correlates closely with geography.

!!!

Genetic Genealogy – Using your test

results My personal test results from FTDNA

gave the following ethnicity analysis:-

Ethnicity - FTDNA

European 97%

◦ West and Central Europe 54%

◦ Scandinavia 23%

◦ British Isles 20%

Trace Results

◦ Ashkenazi <2%

◦ East Europe <2%

FTDNA Ancient Origins

Metal Age Invader 13%

Farmer 43%

Hunter-Gatherer 45%

Genetic Genealogy – Using your test

results The ethnicity results will only be of mild

interest to most of us and give little help

to our family history search but for an

individual of mixed-race ancestry the

results may be more significant.

Health

Research has shown that certain medical

conditions with particular gene variations

(mutations).

E.g. sickle cell trait

◦ Good in early life – malaria resistance

◦ Bad in later life – sickle cell anaemia and other

blood problems.

Health

An enhanced test result at 23andme or

submission of your test results to

Promethease will produce a health

report based upon your test results.

Promethase is ‘raw’ data, 23andme is user

friendly

Health - Promethease Promethease is a literature retrieval system that

builds a personal DNA report based on connecting a file of DNA genotypes to the scientific findings cited in SNPedia. Customers of DNA testing services (such as 23andMe, Ancestry.com, FamilyTreeDNA, Genos, etc.), biomedical researchers and healthcare professionals use Promethease to retrieve information published about their DNA variations. Reports normally cost £10.

Health - Promethease Prostate Cancer – 70 genes listed. eg

◦ 0.3x decreased risk for prostate cancer rs1056836, also known as 4326C/G, Val432Leu or L432V, is a SNP in the cytochrome P450 1B1 ( CYP1B1) gene. This gene is a member of the CYP1 gene family and one of the major enzymes involved in the hydroxylation of estrogens, a reaction likely to be relevant in hormonal carcinogenesis. [In dbSNP orientation, the (C) allele encodes the Leu; the (G) the Val.] In a study of 153 Hispanic Caucasians with prostate cancer the rs1056836(G;G) genotype showed decreased risk compared to the more common (C;C) genotype (odds ratio = 0.31, p = 0.04, CI: 0.10-0.96). This report cites another study as indicating that rs1056836(C;C) high-risk stage III and IV breast cancer patients receiving dose-intense paclitaxel in combination with doxorubicin and cyclophosphamide experience a longer progression-free survival compared with patients with (C;G) or (G;G) genotypes....

◦ NB gene by gene analysis, no overall assessment

Health – 23andme

Genealogical Research –

DNA matches Typically your DNA testing company will give you a list of

‘matches’ within their database

MyHeritage will allow you to import your test results and then give you matches (Free)

GEDmatch imports your test results and you can then search the GEDmatch database for matches with other GEDmatch members (Free)

FTDNA will allow you to import your test results from Ancestry or MyHeritage and then give you matches (£££)

Genealogical Research –

DNA matches

A match is when one or more sequences of

DNA markers (SNPs) in your results is the

same as that in another tested individual.

Due to mutations this is unlikely unless the

two individuals are related.

Recombination mixes the DNA of different

ancestors and makes matches less likely.

Genetic Genealogy

My Heritage match report

DNA Match Report

What does it mean?

What can I do with it?

(What do I do now?)

My Heritage match report

How many cousins? A study by AncestryDNA, based on British birth rates, census data,

parliamentary research briefings and other sources for the last 200 years, produced the following statistics on the number of cousins that the average British person would be expected to have.

Relationship Number of cousins

First cousins 5

Second cousins 28

Third cousins 175

Fourth cousins 1570

Fifth cousins 17,300

Sixth cousins 174,000

My Heritage match report

What is a centiMorgan The centiMorgan is equal to a 1% chance that a marker

at one genetic locus on a chromosome will be

separated from a marker at a second locus due to

crossing over in a single generation.

100% of atDNA = 6768

centiMorgans

Effectively 3384 cM due

sequencing method

1cM = about 1 million

base pairs on average

Amount of inherited DNA

50% from each parent

25% from each grandparent

EACH SIBLING HAS A DIFFERENT DNA

MIXTURE

50% to each child

25% to each grandchild

Amount of shared DNA 50% with brother/sister

50% with son/daughter

50% with each parent

25% with uncle/aunt

12.5% with first cousin

3.125% with second cousin

0.78% with third cousin

Shared DNA - %

Shared DNA - cM

My Heritage match report

DNA match quality

DNA Match Quality

IBD – Identical by descent : IBS – Identical by State

Effect of including short segments

120cM = 2nd - 3rd cousin

My Heritage Heather Diane Conine

Age: 30's

DNA managed by Kai Hankinson

DNA Match quality

Shared DNA

0.6% (40.2‎ cM)

Shared segments

2

Largest segment

20.7‎ cM

Estimated relationships

3rd - 5th cousin

Family tree details

Heather Diane Conine appears in a family tree with 86 people, managed by Kai Hankinson from USA

View treeReview DNA Match

My Heritage

My Heritage

DNA matches – what next Attempt to find your match’s name in your

own family tree.

E-mail your match giving

◦ Where you found the match

◦ What you know

◦ A list of ancestral surnames

◦ A request for more information (eg are any of your surnames in their family tree).

Searching for ‘Cousins’

If a match on surnames then

◦ Where

◦ When

◦ START DIGGING

If no match on surnames, give up – unless

the genetic match is very close.

Information to give My ancestral surnames are ◦ Swindale (etc), Rattray, Larkins, Mahler, Gregg,

Holmes, Butler, Richards, Williamson, Watson, Slack, Bell, Shield, Dawson, Thompson, Maughan, Orde, Usher, Nicholson, Wilson, Scott, Dickinson, Russell, Kitchen, Hartley, Sharp, Stephenson, Porter, Viccars, Ryan, Davis, Hutchinson, Soper, Drummond, Bissit, Orr, Cunningham, Dives, Kelsey, Chatfield, Gatford, Uwins, Sprenger, Pille, Stephens, Keogh, Lewis, Fleming, Mitchell, Roberts,

My ancestral surnames (sorted) Bell Bissit Butler Chatfield Cunningham Davis

Dawson Dickinson Dives Drummond Fleming Gatford Gregg Hartley Holmes Hutchinson Kelsey Keogh Kitchen Larkins Lewis Mahler Maughan Mitchell Nicholson Orde Orr Pille Porter Rattray Richards Roberts Russell Ryan Scott Sharp Shield Slack Soper Sprenger Stephens Stephenson Swindale Thompson Usher Uwins Viccars Williamson Wilson Watson

Secrets to Success

Develop your tree and share it

Start with your closest matches

Develop a relationship with them

Keep track of what you have done

atDNA organiser Spreadsheet with

◦ Where you found the match (FTDNA, Ancestry, GEDMatch, MyHeritage etc)

◦ Name of match and contact person

◦ E-mail addres

◦ Date first e-mail sent; date of reply

◦ Total cM; longest segment cM

◦ Notes, eg predicted relationship

◦ Most Recent Common Ancestor (when found)

◦ GEDMatch ID, GEDCom

http://blog.kittycooper.com/2014/01/organizing-your-autosomal-dna-information-with-a-spreadsheet/

A match from My Heritage Heather Gravatt is 39 years old and was

born on 09/02/1978. Currently, she lives in Carlsbad, CA; and previously lived in lakeland, FL. Sometimes Heather goes by various nicknames including Heather D Gravatt, Heather Conine, Heather Diane Gravatt, Heather D Conine. Heather's education includes attending evangel ...

DNA testing kits FTDNA ◦ atDNA $79 (~£56)+ delivery [£50 via AJS]

◦ Y-DNA from $169 (~£120) + [£89 via AJS]

◦ mtDNA $199 (~£142) + delivery

AncestryDNA (atDNA) - £79 + delivery

23andme (atDNA) - £79 + delivery

LivingDNA (atDNA) - £99 + delivery

MyHeritage (atDNA) - £69 + delivery

DNA Testing Kit

Cheek swab - FTDNA Saliva tube - Ancestry

Same for atuosomal DNA, Y-DNA and mtDNA

Further Information

Maurice Gleeson

◦ https://youtu.be/r_y1sZWRD34

Family Tree DNA Webinar

◦ https://youtu.be/dUXKdy0-Fg8

www.familytreedna.com/learn.ftdna/webin

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