Genetic Genealogy The Background Science Genealogy - using... · 2018. 5. 20. · Genetic Genealogy...
Transcript of Genetic Genealogy The Background Science Genealogy - using... · 2018. 5. 20. · Genetic Genealogy...
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Teesdale U3A
Genealogy Group
Genetic
Genealogy
Using your test results
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Genetic Genealogy – Using your
test results
The raw test results are not ‘user-friendly’:-
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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.
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Your Y-DNA test results
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Your mtDNA test results
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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.
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Using Your DNA test results
Ethnicity
Health
Genealogy research
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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.
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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
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The secret history of the United Kingdom –
written in our genes
600 A.D.
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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.
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Genetic Structure of Europeans
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Genetic Structure of Europeans
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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.
!!!
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Genetic Genealogy – Using your test
results My personal test results from FTDNA
gave the following ethnicity analysis:-
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Ethnicity - FTDNA
European 97%
◦ West and Central Europe 54%
◦ Scandinavia 23%
◦ British Isles 20%
Trace Results
◦ Ashkenazi <2%
◦ East Europe <2%
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FTDNA Ancient Origins
Metal Age Invader 13%
Farmer 43%
Hunter-Gatherer 45%
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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.
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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.
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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
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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.
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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
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Health – 23andme
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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 (£££)
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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.
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Genetic Genealogy
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My Heritage match report
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DNA Match Report
What does it mean?
What can I do with it?
(What do I do now?)
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My Heritage match report
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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
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My Heritage match report
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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
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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
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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
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Shared DNA - %
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Shared DNA - cM
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My Heritage match report
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DNA match quality
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DNA Match Quality
IBD – Identical by descent : IBS – Identical by State
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Effect of including short segments
120cM = 2nd - 3rd cousin
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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
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My Heritage
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My Heritage
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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).
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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.
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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,
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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
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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
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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/
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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 ...
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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
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DNA Testing Kit
Cheek swab - FTDNA Saliva tube - Ancestry
Same for atuosomal DNA, Y-DNA and mtDNA
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Further Information
Maurice Gleeson
◦ https://youtu.be/r_y1sZWRD34
Family Tree DNA Webinar
◦ https://youtu.be/dUXKdy0-Fg8
www.familytreedna.com/learn.ftdna/webin
ars