Genetic genealogy#DNA databases
{{Short description|DNA testing to infer relationships}}
{{genetic genealogy}}
Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used by family historians in the 21st century, as DNA tests became affordable. The tests have been promoted by amateur groups, such as surname study groups or regional genealogical groups, as well as research projects such as the Genographic Project.
{{As of|2019|post=,}} about 30 million people had been tested. As the field developed, the aims of practitioners broadened, with many seeking knowledge of their ancestry beyond the recent centuries, for which traditional pedigrees can be constructed.
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History
File:George Darwin sepia tone.jpg, the first person to estimate the frequency of first-cousin marriages]]
The investigation of surnames in genetics can be said to go back to George Darwin, a son of Charles Darwin and Charles' first cousin Emma Darwin. In 1875, George Darwin used surnames to estimate the frequency of first-cousin marriages and calculated the expected incidence of marriage between people of the same surname (isonymy). He arrived at a figure of 1.5% for cousin-marriage in the population of London, higher (3%-3.5%) among the upper classes and lower (2.25%) among the general rural population.
=Surname studies=
A famous study in 1998 examined the lineage of descendants of Thomas Jefferson's paternal line and male lineage descendants of the freed slave Sally Hemings.
Bryan Sykes, a molecular biologist at Oxford University, tested the new methodology in general surname research.{{Cite web|url=https://cruwys.blogspot.com/2018/03/farewell-to-oxford-ancestors.html|title=Farewell to Oxford Ancestors|last=Kennett|first=Debbie|date=2018-03-14|website=Cruwys news|access-date=2018-05-21}} His study of the Sykes surname, published in 2000, obtained results by looking at four STR markers on the male chromosome. It pointed the way to genetics becoming a valuable assistant in the service of genealogy and history.
=Direct-to-consumer DNA testing=
{{main|Genealogical DNA testing}}
In 2000, Family Tree DNA was the first company to provide direct-to-consumer genetic testing for genealogy research. It initially offered eleven-marker Y-chromosome STR tests and HVR1 mitochondrial DNA tests but not multi-generational genealogy tests. In 2001, GeneTree was acquired by Sorenson Molecular Genealogy Foundation (SMGF), which provided free Y-chromosome and mitochondrial DNA (mtDNA) tests. GeneTree later returned to genetic testing in conjunction with its Sorenson parent company until it was acquired by Ancestry.com in 2012.
In 2007, 23andMe was the first company to offer saliva-based direct-to-consumer testing,{{Cite news |last=Hamilton |first=Anita |url=http://www.time.com/time/specials/packages/article/0,28804,1852747_1854493,00.html |archive-url=https://web.archive.org/web/20081102044918/http://www.time.com/time/specials/packages/article/0,28804,1852747_1854493,00.html |url-status=dead |archive-date=November 2, 2008 | title = Best Inventions of 2008 | magazine = Time | date=October 29, 2008 | access-date = April 5, 2012}} and the first to use autosomal DNA for ancestry testing.{{cite web |url=https://mediacenter.23andme.com/company/about-us/ |title=About Us |website=23andMe |access-date=2017-11-22 |archive-date=2018-02-14 |archive-url=https://web.archive.org/web/20180214073640/https://mediacenter.23andme.com/company/about-us/ |url-status=dead }}{{cite book |chapter-url=https://isogg.org/wiki/Autosomal_DNA_testing_comparison_chart |title=Autosomal DNA testing comparison chart |website=International Society of Genetic Genealogy Wiki |last1=Janzen |first1=Tim |display-authors=etal |chapter=Family Tree DNA Learning Center |publisher=Gene by Gene }} An autosome is one of the 22 chromosomes other than the X or Y chromosomes. They are transmitted from all ancestors in recent generations and so can be used to match with other testers who may be related. Companies were later also able to use this data to estimate how much of each ethnicity a customer has. FamilyTreeDNA entered this market in 2010, followed by AncestryDNA in 2012, and the number of tests grew rapidly. By 2018 autosomal testing had become the predominant type of test, and for many companies the only test they offered.{{Cite web|url=https://www.familytreemagazine.com/premium/top-5-autosomal-dna-tests-2018/|title=The Top 5 Autosomal DNA Tests of 2018|last=Southard|first=Diahan|date=2018-04-25|website=Family Tree|language=en-US|access-date=2019-01-18}}
MyHeritage launched its testing service in 2016, allowing users to use cheek swabs to collect samples,{{cite news |last1=Lardinois |first1=Frederic |title=MyHeritage launches DNA testing service to help you uncover your family's history |url= https://techcrunch.com/2016/11/07/myheritage-launches-dna-testing-service-to-help-you-uncover-your-familys-history/ |access-date=13 December 2016|work=TechCrunch|date=7 November 2016}} and introduced new analysis tools in 2019: autoclusters (grouping matches visually into clusters){{Cite web |url=https://blog.myheritage.com/2019/02/introducing-autoclusters-for-dna-matches/ |title=Introducing AutoClusters for DNA Matches|date=2019-02-28|website=MyHeritage Blog}} and family tree theories (suggesting conceivable relations between DNA matches by combining several MyHeritage trees and the Geni global family tree).{{Cite web |url=https://www.danaleeds.com/myheritages-theory-of-family-relativity-an-exciting-new-tool/|title=MyHeritage's "Theory of Family Relativity": An Exciting New Tool!|date=2019-03-15 |website=DanaLeeds.com |language=en-US}} Living DNA, founded in 2015, uses SNP chips to provide reports on autosomal ancestry, Y, and mtDNA ancestry.{{Cite web|url=https://www.techradar.com/reviews/living-dna-review|title=Living DNA review|date=21 June 2019}}{{Cite web|url=https://www.cnn.com/2019/04/22/cnn-underscored/living-dna-review-dna-testing-for-ethnicity/index.html|title = Is this the most detailed at-home DNA testing kit yet?|website = CNN|date = 22 April 2019}}
By 2019, the combined total of customers at the four largest companies was 26 million.{{cite web |url=https://blogs.ancestry.com/ancestry/2017/11/02/continued-commitment-to-customer-privacy-and-control/ |title=Continued Commitment to Customer Privacy and Control |website=Ancestry Blog |date=November 2, 2017 |access-date=November 22, 2017 |archive-date=January 26, 2021 |archive-url=https://web.archive.org/web/20210126145212/https://blogs.ancestry.com/ancestry/2017/11/02/continued-commitment-to-customer-privacy-and-control/ |url-status=dead }} By August 2019, it was reported that about 30 million people had had their DNA tested for genealogical purposes.{{Cite web|url=https://www.cnbc.com/2019/08/25/dna-tests-from-companies-like-23andme-ancestry-see-sales-slowdown.html|title=Consumer DNA testing has hit a lull — here's how it could capture the next wave of users|last=Farr|first=Christina|date=2019-08-25|website=CNBC|language=en|access-date=2019-12-01}}{{Cite web|url=https://www.technologyreview.com/s/612880/more-than-26-million-people-have-taken-an-at-home-ancestry-test/|title=More than 26 million people have taken an at-home ancestry test|last=Regalado|first=Antonio|date=2019-02-11|website=MIT Technology Review|language=en|access-date=2019-04-16}}
GEDmatch said in 2018 that about half of their one million profiles were American.{{Cite news |url= https://www.haaretz.com/us-news/.premium.MAGAZINE-to-solve-cold-cases-all-it-takes-is-dna-a-genealogy-site-and-high-speed-internet-1.6657176 |title=To Solve Cold Cases, All It Takes Is Crime Scene DNA, a Genealogy Site and High-speed Internet |last=Michaeli |first=Yarden |date=2018-11-16|work=Haaretz|access-date=2018-11-21|language=en}} Due to the limited geographical distribution of DNA testees, databases and results limit knowledge of variation present in other racial groups. However, this can only be remedied by testing more individuals, making geneticists aware of the genetic variation present in currently underrepresented testees.
=Genetic genealogy revolution=
The publication of The Seven Daughters of Eve by Sykes in 2001, which described the seven major haplogroups of European ancestors, helped push personal ancestry testing through DNA tests into wide public notice. With the growing availability and affordability of genealogical DNA testing, genetic genealogy as a field grew rapidly. By 2003, the field of DNA testing of surnames was declared officially to have "arrived" in an article by Jobling and Tyler-Smith in Nature Reviews Genetics. The number of firms offering tests, and the number of consumers ordering them, rose dramatically. In 2018, a paper in Science Magazine estimated that a DNA genealogy search on anybody of European descent would result in a third cousin or closer match 60% of the time.{{Cite journal|last1=Erlich|first1=Yaniv|last2=Shor|first2=Tal|last3=Pe'er|first3=Itsik|last4=Carmi|first4=Shai|date=2018-11-09 |title=Identity inference of genomic data using long-range familial searches |journal=Science |language=en |volume=362 |issue=6415 |pages=690–694|doi=10.1126/science.aau4832|issn=0036-8075|pmid=30309907|pmc=7549546|bibcode=2018Sci...362..690E|doi-access=free}}
=Genographic Project=
{{main|Genographic Project}}
{{Update|section|date=September 2013}}
The original Genographic Project was a five-year research study launched in 2005 by the National Geographic Society and IBM, in partnership with the University of Arizona and Family Tree DNA. Its goals were primarily anthropological. The project announced that by April 2010 it had sold more than 350,000 of its public participation testing kits, which test the general public for either twelve STR markers on the Y chromosome or mutations on the HVR1 region of the mtDNA.
The phase of the project in 2016 was Geno 2.0 Next Generation.{{cite web |title=About the Genographic Project - National Geographic |url=https://genographic.nationalgeographic.com/about/ |archive-url=https://web.archive.org/web/20130122064832/https://genographic.nationalgeographic.com/about/ |url-status=dead |archive-date=January 22, 2013 |website=Genographic Project}} As of 2018, almost one-million participants in over 140 countries had joined the project.{{cite web |title=National Geographic Geno DNA Ancestry Kit {{!}} Human Migration, Population Genetics |url=https://genographic.nationalgeographic.com/ |archive-url=https://web.archive.org/web/20121221212658/https://genographic.nationalgeographic.com/ |url-status=dead |archive-date=December 21, 2012 |website=Genographic Project}}
=Typical customers and interest groups=
{{More citations needed section|date=July 2013}}
Genetic genealogy has enabled groups of people to trace their ancestry even though they are not able to use conventional genealogical techniques. This may be because they do not know one or both of their birth parents or because conventional genealogical records have been lost, destroyed or never existed. These groups include adoptees, foundlings, Holocaust survivors, GI babies, child migrants, descendants of children from orphan trains and people with slave ancestry.[https://www.theatlantic.com/science/archive/2017/06/how-african-americans-use-dna-testing-to-connect-with-their-past/531834/ How African Americans Use DNA Testing to Connect With Their Past]
The earliest test takers were customers most often those who started with a Y-chromosome test to determine their father's paternal ancestry. These men often took part in surname projects. The first phase of the Genographic Project brought new participants into genetic genealogy. Those who tested were as likely to be interested in direct maternal heritage as their paternal. The number of those taking mtDNA tests increased. The introduction of autosomal SNP tests based on microarray chip technology changed the demographics. Women were as likely as men to test themselves.
=Citizen science and ISOGG=
{{further|Conversion table for Y chromosome haplogroups{{!}}Y-chromosome haplogroup trees}}
Members of the genetic genealogy community have been credited with making useful contributions to knowledge in the field, an example of citizen science.{{cite book|last=Redmonds|first=George|title=Surnames, DNA, and Family History |year=2011|publisher=Oxford University Press |location=Oxford |isbn=9780199582648 |page=196 |url= https://books.google.com/books?id=tQRMzEcIb2gC |author2=King, Turi |author3=Hey, David |quote=The growth of interest in genetic genealogy has inspired a group of individuals outside the academic area who are passionate about the subject and who have an impressive grasp of the research issues. Two focal points for this group are the International Society of Genetic Genealogy and the Journal of Genetic Genealogy. The ISOGG is a non-profit, non-commercial organization that provides resources and maintains one of the most up-to-date, if not completely academically verified, phylogenetic trees of Y chromosome haplogroups.}}
One of the earliest interest groups to emerge was the International Society of Genetic Genealogy (ISOGG). Their stated goal is to promote DNA testing for genealogy. Members advocate the use of genetics in genealogical research and the group facilitates networking among genetic genealogists. Since 2006 ISOGG has maintained the regularly updated ISOGG Y-chromosome phylogenetic tree. ISOGG aims to keep the tree as up-to-date as possible, incorporating new SNPs. However, the tree has been described by academics as not completely academically verified, phylogenetic trees of Y chromosome haplogroups.
Uses
=Direct maternal lineages=
{{further|Genealogical_DNA_test#Mitochondrial_DNA_.28mtDNA.29_testing{{!}}Genealogical DNA Test - Mitochondrial DNA (mtDNA) testing}}
Mitochondrial DNA (mtDNA) testing involves sequencing at least part of the mitochondrial genome. The mitochondrial DNA is transmitted from mother to child, and so can reveal information about the unbroken maternal line. When two individuals have matching or near matching mitochondrial DNA, it can be inferred that they share a common maternal-line ancestor at some point in the "recent" past.{{cite web |url=https://learn.familytreedna.com/mtdna-testing/ |title=mtDNA Testing |publisher=Family Tree DNA |accessdate=27 September 2022 }} Care should be taken to avoid overstating the recency of a relationship however, as a mutation in the mitochondrial genome will only occur every 1000 to 3000 years on average.{{cite journal |last1=Cabrera |first1=Vicente |title=Human molecular evolutionary rate, time dependency and transient polymorphism effects viewed through ancient and modern mitochondrial DNA genomes |journal=Scientific Reports |date=3 Mar 2021 |volume=11 |issue=1 |page=5036 |doi=10.1038/s41598-021-84583-1 |pmid=33658608 |pmc=7930196 |bibcode=2021NatSR..11.5036C |ref=5036}} For this reason, it is usually impossible to distinguish between two individuals related within the last one or two millennia on the basis of mtDNA alone.
=Direct paternal lineages=
{{further|Genealogical_DNA_test#Y_chromosome_.28Y-DNA.29_testing{{!}}Genealogical DNA Test - Y-Chromosome DNA (Y-DNA) testing}}
Y-Chromosome DNA (Y-DNA) testing involves short tandem repeat (STR) and, sometimes, single nucleotide polymorphism (SNP) testing of the Y-Chromosome, which is present only in males and only reveals information on the unbroken paternal line. As with the mitochondria, close matches with individuals indicate a recent common ancestor.
A father passes his entire Y chromosome—including the Male-Specific Y (MSY) region—to his son with very minimal change, barring occasional mutations. This region does not recombine with the mother’s chromosomes (unlike autosomes and the X), so it’s a nearly unshuffled genetic record of direct paternal descent. Y-chromosomes lineages can be tracked with a standard phylogeny tree, using traditional data structures and monophylogeny. {{cite web |url=https://web.stanford.edu/~philr/Bachman/DNABachman3.html |title=The Y-Chromosome and Genetic Genealogy.}}
Because surnames in many cultures are transmitted down the paternal line, this testing is often used by surname DNA projects.{{cite web |url=https://learn.familytreedna.com/y-dna-testing/ |title=Y-DNA STR Testing |publisher=Family Tree DNA |accessdate=27 September 2022 }}
While early studies using STRs made bold claims that large numbers of men descend from prominent historical individuals (e.g. Niall of the Nine Hostages and Genghis Khan), more recent SNP studies have shown many of these to be invalid. In particular, STR mutations are now known to be largely unreliable in proving kinship, as these mutations can appear in multiple unrelated lineages by chance. SNP testing is necessary to prove a true relationship, as these mutations are considered so rare that they could only have arisen in one individual in history. In the few cases where the same SNP mutation occurs in different lineages, the accompanying SNPs ensure its recognition as a de novo mutation. Even so, studies based ostensibly on SNP mutations can still be misleading, as in the case of Fehér (2024),{{cite journal |last1=Fehér |first1=Tibor |title=High Resolution Paternal Genetic History of Ireland and its Implications for Demographic History |journal=Journal of the Genealogical Society of Ireland |date=2024 |volume=25 |pages=110–156}} which presented few if any results from individuals with verified patrilines, and associated kin-groups with various SNP mutations that predate their formation by hundreds or thousands of years.
To prove descent from a common ancestor in the male line, a Y-DNA clade generally requires triangulation back to a most recent common ancestor (MRCA), who is generally referred to by the name of the mutation (e.g. L21, U106, etc.) as a shorthand. A SNP mutation unique to a family or kin group is referred to as a "defining mutation", the testing of which can exclude men not related through the male line within one or two centuries at the most. This has been exploited in recent times to identify the defining mutations of noble and royal lineages, such as the Stewarts of Scotland{{cite journal |last1=Holton |first1=G.S. |title=Discovering unknown medieval descents: a genetic approach - medieval genealogy for the masses |journal=Foundations |date=2020 |volume=12 |pages=2–15}} and the Uí Briúin dynasty of Ireland.{{cite journal |last1=DePew |first1=Kyle |last2=Gleeson |first2=Maurice |last3=Jaski |first3=Bart |title=Tracing the Sons of Brión: The R1b-A259 Y-DNA Subclade and the Uí Briúin Dynasty of Connacht |journal=Peritia |date=2023 |volume=34 |pages=9–45|doi=10.1484/J.PERIT.5.136859 }}
=Pedigree family trees=
Pedigree family trees have traditionally been prepared from recollections of individuals about their parents and grandparents. These family trees may be extended if recollections of earlier generations were preserved through oral tradition or written documents. Some genealogists regard oral tradition as myths unless confirmed{{cite web|url=http://www.sog.org.uk/learn/education-sub-page-for-testing-navigation/guide-ten/|title=Genealogy or Family History? What's the Difference?|publisher=Society of Genealogists|access-date=10 Aug 2013|archive-url=https://web.archive.org/web/20130705073704/http://www.sog.org.uk/learn/education-sub-page-for-testing-navigation/guide-ten/|archive-date=5 July 2013|url-status=live}} with written documentation like birth certificates, marriage certificates, census reports, headstones, or notes in family bibles.{{cite web |url=https://www.thegenealogyassistant.com/index.php/store/three-brushes-with-death/43-news/blog-posts/314-what-are-primary-a-secondary-sources |title=What Are Primary & Secondary Sources? |publisher=The Genealogy Assistant |accessdate=26 September 2022 }} Few written records are kept by illiterate populations, and many documents have been destroyed by warfare or natural disasters. DNA comparison may offer an alternative means of confirming family relationships of biological parents, but may be confused by adoption or when a mother conceals the identity of the father of her child.{{cite web |url=https://dna-explained.com/2018/07/11/ancestors-what-constitutes-proof/ |title=Ancestors: What Constitutes Proof? |last= |first= |website= |date=11 July 2018 |publisher=DNAeXplained – Genetic Genealogy |accessdate=26 September 2022 }}
While mitochondrial and Y-chromosome DNA matching offer the most definitive confirmation of ancestral relationships, the information from a tested individual is relevant to a decreasing fraction of their ancestors from earlier generations. Potential ambiguity must be considered when seeking confirmation from comparison of autosomal DNA. The first source of ambiguity arises from the underlying similarity of every individual's DNA sequence. Many short gene segments will be identical by coincidental recombination (Identical by State: IBS) rather than inheritance from a single ancestor (Identical by Descent: IBD). Segments of greater length offer increased confidence of a shared ancestor. A second source of ambiguity results from the random distribution of genes to each child of a parent. Only identical twins inherit exactly the same gene segments. Although a child inherits exactly half of their DNA from each parent, the percentage inherited from any given ancestor in an earlier generation (with the exception of X chromosome DNA) varies within a normal distribution around a median value of 100% divided by the number of ancestors in that generation. An individual comparing autosomal DNA with ancestors of successively earlier generations will encounter an increasing number of ancestors from whom they inherited no DNA segments of significant length. Since individuals inherit only a small portion of their DNA from each of their great-grandparents, cousins descended from the same ancestor may not inherit the same DNA segments from that ancestor. All descendants of the same parent or grandparent, and nearly all descendants of the same great-grandparent, will share gene segments of significant length; but approximately 10% of 3rd cousins, 55% of 4th cousins, 85% of 5th cousins, and more than 95% of more distant cousins will share no gene segments of significant length. Failure to share a gene segment of significant length does not disprove the shared ancestry of a distant cousin.{{cite web |url=https://customercare.23andme.com/hc/en-us/articles/212170958-DNA-Relatives-Detecting-Relatives-and-Predicting-Relationships |title=DNA Relatives: Detecting Relatives and Predicting Relationships |publisher=23andMe |accessdate=26 September 2022 }}
The best autosomal DNA method for confirming ancestry is to compare DNA with known relatives. A more complicated task is using a DNA database to identify previously unknown individuals who share DNA with the individual of interest; and then attempting to find shared ancestors with those individuals.{{cite web |url=https://www.wikitree.com/wiki/Help:DNA_Ancestor_Confirmation_Aid |title=Help:DNA Ancestor Confirmation Aid |last=Janzen |first=Tim |publisher=WikiTree |accessdate=26 September 2022 }} The first problem with the latter procedure involves the relatively poor family history knowledge of most database populations. A significant percentage of individuals in many DNA databases have done DNA testing because they are uncertain of their parentage, and many who confidently identify their parents are unable or unwilling to share information about earlier generations. It may be easier to identify a shared ancestor in the fortunate situation of shared DNA between two individuals with comprehensive family trees, but finding multiple shared ancestors raises the question of from which of those ancestors was the shared segment inherited. Resolving that ambiguity typically requires finding a third individual sharing both the ancestor and the gene segment of interest.{{cite web |url=https://www.wikitree.com/wiki/Help:Triangulation |title=Help:Triangulation |publisher=WikiTree |accessdate=26 September 2022 }}
=Ancestral origins=
{{Further|Biogeographic ancestry|Population genetics}}
A common component of many autosomal tests is a prediction of biogeographical origin, often called ethnicity. A company offering the test uses computer algorithms and calculations to make a prediction of what percentage of an individual's DNA comes from particular ancestral groups. A typical number of populations is at least 20. Despite this aspect of the tests being heavily promoted and advertised, many genetic genealogists have warned consumers that the results may be inaccurate, and at best are only approximate.{{cite web |url=https://dna-explained.com/2016/02/10/ethnicity-testing-a-conundrum/ |title=Ethnicity Testing — A Conundrum |website=DNAeXplained – Genetic Genealogy |last=Estes |first=Roberta |date=February 10, 2016 }}
Modern DNA sequencing has identified various ancestral components in contemporary populations. A number of these genetic elements have West Eurasian origins. They include the following ancestral components, with their geographical hubs and main associated populations:
=Human migration=
{{Main|Human migration}}
Genealogical DNA testing methods have been used on a longer time scale to trace human migratory patterns. For example, they determined when the first humans came to North America and what path they followed.
For several years, researchers and laboratories from around the world sampled indigenous populations from around the globe in an effort to map historical human migration patterns. The National Geographic Society's Genographic Project aims to map historical human migration patterns by collecting and analyzing DNA samples from over 100,000 people across five continents. The DNA Clans Genetic Ancestry Analysis measures a person's precise genetic connections to indigenous ethnic groups from around the world.
=Law enforcement=
{{Further|Investigative genetic genealogy}}
Law enforcement may use genetic genealogy to track down perpetrators of violent crimes such as murder or sexual assault and they may also use it to identify deceased individuals. Initially genetic genealogy sites GEDmatch and Family Tree DNA allowed their databases to be used by law enforcement and DNA technology companies {{Cite web |url= https://www.technologyreview.com/s/611048/the-brave-new-world-of-genetic-genealogy/ |title = The brave new world of genetic genealogy}}{{Cite news |url= https://www.beloitdailynews.com/news/20190228/body_found_in_1995_tentativelyidentified_ | title=Body found in 1995 tentatively identified| date=24 March 1977}} to do DNA testing for violent criminal cases and genetic genealogy research at the request of law enforcement. This investigative, or forensic, genetic genealogy technique became popular after the arrest of the alleged Golden State Killer in 2018,{{cite news |last1=Molteni |first1=Megan |title=What the Golden State Killer tells us about Forensic Genetics |url= https://www.wired.com/story/the-meteoric-rise-of-family-tree-forensics-to-fight-crimes/|access-date=25 April 2019 |magazine=Wired |date=24 April 2019 |archive-url=https://web.archive.org/web/20190425121813/https://www.wired.com/story/the-meteoric-rise-of-family-tree-forensics-to-fight-crimes/ |archive-date=25 April 2019 |url-status=live}} but has received significant backlash from privacy experts.{{cite journal |last1=Zabel |first1=Joseph |title=The Killer Inside Us: Law, Ethics, and the Forensic Use of Family Genetics |journal=Berkeley Journal of Criminal Law |date=2019-05-22|ssrn=3368705 }}{{Cite journal |last1=Curtis|first1=Caitlin|last2=Hereward|first2=James|last3=Mangelsdorf|first3=Marie |last4=Hussey |first4=Karen |last5=Devereux|first5=John|date=December 2018|title=Protecting trust in medical genetics in the new era of forensics|journal=Genetics in Medicine|volume=21|issue=7|pages=1483–1485|doi=10.1038/s41436-018-0396-7 |pmid=30559376|pmc=6752261}} However, in May 2019 GEDmatch made their privacy rules more restrictive, thereby reducing the incentive for law enforcement agencies to use their site.{{Cite news |url= https://www.forensicmag.com/news/2019/05/gedmatch-changes-blow-law-enforcement-and-forensic-genealogy |title=GEDmatch Changes Are 'Blow' to Law Enforcement – and Forensic Genealogy|last=Augenstein|first=Seth|date=2019-05-20|website=Forensic Magazine|language=en|access-date=2019-05-24}}{{Cite news|url=https://www.forensicmag.com/news/2019/05/forensic-genealogy-where-does-cold-case-breakthrough-technique-go-after-gedmatch-announcement|title=Forensic Genealogy: Where Does Cold-Case Breakthrough Technique Go After GEDmatch Announcement?|last=Augenstein|first=Seth|date=2019-05-23|website=Forensic Magazine|language=en|access-date=2019-05-24}} Other sites such as Ancestry.com, 23andMe and MyHeritage have data policies that say that they would not allow their customer data to be used for crime solving without a warrant from law enforcement as they believed it violated users' privacy.{{cite news |last1=Pauly |first1=Madison |date=12 March 2019 |title=Police Are Increasingly Taking Advantage of Home DNA Tests. There Aren't Any Regulations to Stop It. |url=https://www.motherjones.com/crime-justice/2019/03/genetic-genealogy-law-enforcement-golden-state-killer-cece-moore/ |website=Mother Jones |access-date=26 April 2019 |archive-url=https://web.archive.org/web/20190331184407/https://www.motherjones.com/crime-justice/2019/03/genetic-genealogy-law-enforcement-golden-state-killer-cece-moore/ |archive-date=31 March 2019 |url-status=live}}{{Cite journal|last=Lund|first=Solana|date=2020-05-15|title=Ethical Implications of Forensic Genealogy in Criminal Cases|url=https://digitalcommons.pepperdine.edu/jbel/vol13/iss2/6/|journal=The Journal of Business, Entrepreneurship and Law|publisher=Pepperdine University School of Law, California, USA|volume=13|issue=2|pages=189–192}}
See also
{{Main|List of genetic genealogy topics}}
{{div col|colwidth=18em}}
- Allele
- Allele frequency
- Electropherogram
- Genetic recombination
- Haplotype
- Human mitochondrial DNA haplogroup
- Human mitochondrial genetics
- Human Y-chromosome DNA haplogroup
- Most recent common ancestor
- Non-paternity event
- List of Y-chromosome haplogroups in populations of the world
- Y-STR (Y-chromosome short tandem repeat)
{{div col end}}
References
{{Reflist|refs=
{{cite web |url=http://americanhistory.si.edu/exhibitions/exhibition.cfm?key=38&exkey=1669 |title=Slavery at Jefferson's Monticello: The Paradox of Liberty, 27 January 2012 – 14 October 2012 |publisher=Smithsonian Institution |access-date=23 March 2012 |quote=The [DNA] test results show a genetic link between the Jefferson and Hemings descendants: A man with the Jefferson Y chromosome fathered Eston Hemings (born 1808). While there were other adult males with the Jefferson Y chromosome living in Virginia at that time, most historians now believe that the documentary and genetic evidence, considered together, strongly support the conclusion that [Thomas] Jefferson was the father of Sally Hemings's children. |archive-date=30 May 2013 |archive-url=https://web.archive.org/web/20130530094318/http://americanhistory.si.edu/exhibitions/exhibition.cfm?key=38&exkey=1669 |url-status=dead }}
}}
Further reading
=Books=
{{refbegin}}
- {{cite book | isbn = 978-0-9664027-1-1 | title = How to DNA Test Our Family Relationships | last1 = Carmichael | first1 = Terrence | author2 = Alexander Ivanof Kuklin; Ed Grotjan | year = 2000 | publisher = AceN Press | location = Mountain View, CA | url = https://archive.org/details/howtodnatestourf00terr }} Early book on adoptions, paternity and other relationship testing. Carmichael is a founder of GeneTree.
- {{cite book | isbn = 978-0-691-08750-4 | title = The History and Geography of Human Genes | url = https://archive.org/details/historygeography0000cava_g9l7 | url-access = registration | last1 = Cavalli-Sforza | first1 = Luigi Luca |author2=Paolo Menozzi; Alberto Piazza | year = 1994 | publisher = Princeton University Press | location = Princeton, N.J. }}
- {{cite book | isbn = 978-0-201-44231-1 | title = The Great Human Diasporas : The History of Diversity and Evolution | last1 = Cavalli-Sforza | first1 = Luigi L. | first2 = Francesco | last2 = Cavalli-Sforza | first3 = Heather | last3 = Mimnaugh | first4 = Lynn | last4 = Parker | year = 1996 | publisher = Addison-Wesley | location = Reading, MA | url-access = registration | url = https://archive.org/details/greathumandiaspo00luig }}
- {{cite book | isbn = 978-0-9767160-1-3 | title = DNA and Genealogy | last1 = Fitzpatrick | first1 = Colleen | author2 = Andrew Yeiser | year = 2005 | publisher = Rice Book Press | location = Fountain Valley, CA | url = https://archive.org/details/dnagenealogy00coll }}
- {{cite book | isbn = 978-0-674-89203-3 | title = Timewalkers : The Prehistory of Global Colonization | last1 = Gamble | first1 = Clive | year = 1996 | publisher = Harvard University Press | location = Cambridge, MA | url-access = registration | url = https://archive.org/details/timewalkersprehi0000gamb_f9t1 }}
- {{cite book | isbn = 978-0-8153-4185-7 | title = Human Evolutionary Genetics : Origins, Peoples and Disease | last1 = Jobling | first1 = Mark |last2=Hurles |first2=Matthew |last3=Tyler-Smith |first3=Chris | year = 2003 | publisher = Garland Science | location = New York, NY }}
- {{cite book | isbn = 978-0-618-35210-4 | title = Mapping Human History : Genes, Race, and Our Common Origins | last1 = Olson | first1 = Steve | year = 2003 | publisher = Houghton Mifflin | location = Boston, MA | url = https://archive.org/details/mappinghumanhist00stev }} Survey of major populations.
- {{cite book | isbn = 978-0-7867-1192-5 | title = The Real Eve : Modern Man's Journey Out of Africa | last1 = Oppenheimer | first1 = Stephen | year = 2003 | publisher = Carroll & Graf | location = New York, NY }}
- {{cite book | isbn = 978-1-59486-006-5 | title = Trace Your Roots with DNA : Using Genetic Tests to Explore Your Family Tree | last1 = Smolenyak | first1 = Megan | author2 = Ann Turner | year = 2004 | publisher = Distributed to the trade by Holtzbrinck Publishers | location = Emmaus, PA; Rodale, NY | url = https://archive.org/details/traceyourrootswi00smol }} Out of date but still worth reading.
- {{cite book | isbn = 978-1-5500-2536-1 | title = DNA and Family History : How Genetic Testing Can Advance Your Genealogical Research | last1 = Pomery | first1 = Chris | author2 = Steve Jones | year = 2004 | publisher = Dundurn Group | location = Toronto, Ontario, Canada | url-access = registration | url = https://archive.org/details/dnafamilyhistory0000pome }} Early guide for do-it-yourself genealogists.
- {{cite book | isbn = 978-1-905615-12-4 | title = Family History in the Genes : Trace Your DNA and Grow Your Family Tree | last1 = Pomery | first1 = Chris | year = 2007 | publisher = National Archives | location = Kew, UK }}
- {{cite book | isbn = 978-1-4016-0144-7 | title = Unlocking Your Genetic History : A Step-by-Step Guide to Discovering Your Family's Medical and Genetic Heritage | last1 = Shawker | first1 = Thomas H. | year = 2004 | publisher = Rutledge Hill Press | location = Nashville, TN }} Guide to the subject of family medical history and genetic diseases.
- {{cite book | isbn = 978-0-393-32314-6 | title = The Seven Daughters of Eve : The Science That Reveals Our Genetic Ancestry | last1 = Sykes | first1 = Bryan | year = 2002 | publisher = Norton | location = New York, NY | url-access = registration | url = https://archive.org/details/sevendaughtersof00brya }} Names the founders of Europe's major female haplogroups Helena, Jasmine, Katrine, Tara, Velda, Xenia, and Ursula.
- {{cite book | isbn = 978-0-393-05896-3 | title = Adam's Curse : A Future Without Men | last1 = Sykes | first1 = Bryan | year = 2004 | publisher = W.W. Norton | location = New York, NY | url-access = registration | url = https://archive.org/details/adamscursefuture0000syke }}
- {{cite book | isbn = 978-0-02-863586-6 | title = Complete Idiot's Guide to Decoding Your Genes | url = https://archive.org/details/completeidiotsgu0000tagl | url-access = registration | last1 = Tagliaferro | first1 = Linda |author2=Mark Vincent Bloom | year = 1999 | publisher = Alpha Books | location = New York, NY }}
- {{cite book | isbn = 978-0-8129-7146-0 | title = The Journey of Man : A Genetic Odyssey | last1 = Wells | first1 = Spencer | year = 2004 | publisher = Random House Trade Paperbacks | location = New York, NY }}
- {{cite book | isbn = 978-1-4403-0057-8 | title = The Family Tree Guide to DNA Testing and Genetic Genealogy (2nd edition 31 Aug. 2019) | last1 = Bettinger | first1 = Blaine | year = 2019 | publisher = Family Tree Books | location = Cincinnati, Ohio, USA }} "Highly recommended book for beginners by various professional genetic genealogists and advanced amateur genealogists, and on genetic genealogy Facebook groups".
{{refend}}
=Documentaries=
{{refbegin}}
{{cite AV media |people=Jennifer Beamish (producer); Clive Maltby (director); Spencer Wells (host) |date=2003 |title=The Journey of Man |medium=DVD |location=Alexandria, VA |publisher=PBS Home Video |asin=B0000AYL48 |isbn=978-0-7936-9625-3 |oclc=924430061 }}
{{refend}}
=Journals=
{{refbegin}}
- {{cite journal|last1=Decker |doi=10.1016/j.fsigen.2007.01.012|pmid=19083761|title=The impact of additional Y-STR loci on resolving common haplotypes and closely related individuals|year=2007 |first1=A.E.|last2=Kline|first2=M.C.|last3=Vallone|first3=P.M.|last4=Butler|first4=J.M.|journal=Forensic Science International: Genetics|volume=1|issue=2|pages=215–217|url=https://zenodo.org/record/1258971}}
- {{cite journal|last1=Dula |doi=10.1046/j.1471-8731.2003.00069.x|title=The Ethical and Social Implications of Exploring African American Genealogies|year=2003 |first1=Annette|last2=Royal|first2=Charmaine|last3=Secundy|first3=Marian Gray|last4=Miles|first4=Steven|journal=Developing World Bioethics|volume=3|issue=2|pages=133–41|pmid=14768645}}
- {{cite journal|last1=Elhaik |doi=10.1093/gbe/evt066|title=The GenoChip: A New Tool for Genetic Anthropology|year=2013 |first1=E.|last2=Greenspan|first2=E.|last3=Staats|first3=S.|last4=Krahn|first4=T.|last5=Tyler-Smith|first5=C.|last6=Xue|first6=Y.|last7=Tofanelli|first7=S.|last8=Francalacci|first8=P.|last9=Cucca|first9=F.|journal=Genome Biology and Evolution|volume=5|issue=5|pages=1021–31|pmid=23666864|pmc=3673633 }}
- {{cite journal|last1=El-Haj |doi=10.1525/ae.2007.34.2.223|title=Rethinking genetic genealogy: A response to Stephan Palmi|year=2007 |first1=Nadia ABU|journal=American Ethnologist|volume=34|issue=2|pages=223–226}}
- {{cite journal|last1=Fujimura |doi=10.1177/0306312710379170|title=Different differences: The use of 'genetic ancestry' versus race in biomedical human genetic research|year=2010 |first1=J. H.|last2=Rajagopalan|first2=R.|journal=Social Studies of Science|volume=41|pages=5–30|pmid=21553638|issue=1|pmc=3124377}}
- {{cite journal|last1=Golubovsky |doi=10.1093/humrep/den052|title=Unexplained infertility in Charles Darwin's family: Genetic aspect|year=2008 |first1=M.|journal=Human Reproduction|volume=23|issue=5|pages=1237–8|pmid=18353904|doi-access=free}}
- {{cite journal|last1=Gymrek |doi=10.1126/science.1229566|title=Identifying Personal Genomes by Surname Inference|year=2013 |first1=M.|last2=McGuire|first2=A. L.|last3=Golan|first3=D.|last4=Halperin|first4=E.|last5=Erlich|first5=Y.|s2cid=3473659|journal=Science|volume=339|issue=6117|pages=321–4|pmid=23329047|bibcode=2013Sci...339..321G}}
- {{cite journal|last1=Larmuseau |doi=10.1002/ajpa.22233|title=Genetic genealogy comes of age: Perspectives on the use of deep-rooted pedigrees in human population genetics|year=2013 |first1=M.H.D.|last2=Van Geystelen|first2=A.|last3=Van Oven|first3=M.|last4=Decorte|first4=R.|journal=American Journal of Physical Anthropology|volume=150|issue=4|pages=505–11|pmid=23440589}}
- {{cite journal|last1=Larmuseau |doi=10.1038/hdy.2012.17|title=In the name of the migrant father—Analysis of surname origins identifies genetic admixture events undetectable from genealogical records|year=2012 |first1=M H D|last2=Vanoverbeke|first2=J|last3=Gielis|first3=G|last4=Vanderheyden|first4=N|last5=Larmuseau|first5=H F M|last6=Decorte|first6=R|journal=Heredity|volume=109|issue=2|pages=90–5|pmid=22511074|pmc=3400745}}
- {{cite journal|last1=McEwen |doi=10.1016/j.tig.2013.02.001|title=Evolving approaches to the ethical management of genomic data|year=2013 |first1=Jean E.|last2=Boyer|first2=Joy T.|last3=Sun|first3=Kathie Y.|journal=Trends in Genetics|volume=29|issue=6|pages=375–82|pmid=23453621|pmc=3665610}}
- {{cite journal | last1 = Moore | first1 = CeCe | year = 2016 | title = The History of Genetic Genealogy and Unknown Parentage Research: An Insider's View | journal = Journal of Genetic Genealogy | volume = 8 | issue = 1| pages = 35–37 }}
- {{cite journal|last1=Nash |doi=10.1080/0950238042000181593|title=Genetic kinship|year=2004 |first1=Catherine|journal=Cultural Studies|volume=18|pages=1–33|s2cid=218547032}}
- {{cite journal|last1=Nelson |doi=10.1177/0306312708091929|title=Bio Science: Genetic Genealogy Testing and the Pursuit of African Ancestry|year=2008 |first1=A.|s2cid=7654852|journal=Social Studies of Science|volume=38|issue=5|pages=759–83|pmid=19227820}}
- {{cite journal|last1=Royal |doi=10.1016/j.ajhg.2010.03.011|title=Inferring Genetic Ancestry: Opportunities, Challenges, and Implications|year=2010 |first1=Charmaine D.|last2=Novembre|first2=John|last3=Fullerton|first3=Stephanie M.|last4=Goldstein|first4=David B.|last5=Long|first5=Jeffrey C.|last6=Bamshad|first6=Michael J.|last7=Clark|first7=Andrew G.|journal=The American Journal of Human Genetics|volume=86|issue=5|pages=661–673|pmid=20466090|pmc=2869013}}
- {{cite journal|last1=Sims |doi=10.1371/journal.pone.0005792|title=Improved Resolution Haplogroup G Phylogeny in the Y Chromosome, Revealed by a Set of Newly Characterized SNPs|year=2009|editor1-last=Batzer|editor1-first=Mark A |first1=Lynn M.|last2=Garvey|first2=Dennis|last3=Ballantyne|first3=Jack|journal=PLOS ONE|volume=4|issue=6|pages=e5792|pmid=19495413|pmc=2686153|bibcode=2009PLoSO...4.5792S|doi-access=free}}
- {{cite journal|last1=Su |doi=10.1007/s12687-011-0048-y|title=Users' motivations to purchase direct-to-consumer genome-wide testing: An exploratory study of personal stories|year=2011 |first1=Yeyang|last2=Howard|first2=Heidi C.|last3=Borry|first3=Pascal|journal=Journal of Community Genetics|volume=2|issue=3|pages=135–46|pmid=22109820|pmc=3186033}}
- {{cite journal|last1=Tutton |doi=10.1080/1463677042000189606|title="They want to know where they came from": Population genetics, identity, and family genealogy|year=2004 |first1=Richard|s2cid=22737465|journal=New Genetics and Society|volume=23|pages=105–20|pmid=15470787|issue=1}}
- {{cite journal|last1=Van Oven |doi=10.1002/humu.20921|title=Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation|year=2009 |first1=Mannis|last2=Kayser|first2=Manfred|s2cid=27566749|journal=Human Mutation|volume=30|issue=2|pages=E386–94|pmid=18853457|doi-access=free}}
- {{cite journal|last1=Williams |doi=10.1007/s11013-005-7426-3|pmid=16249951|title=Genetic Genealogy: The Woodson Family's Experience|year=2005 |first1=Sloan R.|journal=Culture, Medicine and Psychiatry|volume=29|issue=2|pages=225–252|s2cid=24648033}}
- {{cite journal|last1=Wolinsky |doi=10.1038/sj.embor.7400843|title=Genetic genealogy goes global. Although useful in investigating ancestry, the application of genetics to traditional genealogy could be abused|year=2006 |first1=Howard|journal=EMBO Reports|volume=7|issue=11|pages=1072–4|pmid=17077861|pmc=1679782}}
- {{cite journal |last1=Zabel |first1=Joseph |doi=10.15779/Z385D8NF71|title=The Killer Inside Us: Law, Ethics, and the Forensic Use of Family Genetics |journal=Berkeley Journal of Criminal Law |date=2019 |volume=24 |issue=2 |doi-broken-date=1 November 2024 |url=https://lawcat.berkeley.edu/record/1136717}}
- {{cite journal|last1=Greytak |doi=10.1016/j.forsciint.2019.03.039
|title=Genetic genealogy for cold case and active investigations
|year=2019 |first1=Ellen M. |last2=Moore |first2=CeCe |last3=Armentrout |first3=Steven L. |journal=Forensic Science International |volume=299|pages=103–113|pmid=30991209|s2cid=109110359
}}
{{refend}}
External links
{{Commons category}}
- [https://thegeneticgenealogist.com/ Shared cM Project] – how to determine ones relationship based on Centimorgan (cM) values
{{Genetics}}