Genetic genealogy

genetic ancestryGeneticgenetic genealogist
They initially offered eleven marker Y-Chromosome STR tests and HVR1 mitochondrial DNA tests. They originally tested in partnership with the University of Arizona. In 2007, 23andMe was the first company to offer a saliva-based direct-to-consumer genetic testing. It was also the first to implement using autosomal DNA for ancestry testing, which other major companies (e.g. Ancestry, Family Tree DNA and MyHeritage) also later implemented. By August 2019 it was reported that about 30 million people had had their DNA tested for genealogical purposes. GEDmatch said about half of their profiles were American.
Ultimate Family Tree (UFT). 23andMe. Genographic Project. iArchives, Inc.

Family Tree DNA

FamilyTreeDNAFTDNAFamilyTree DNA
FamilyTreeDNA is a division of Gene by Gene, a commercial genetic testing company based in Houston, Texas. FamilyTreeDNA offers analysis of autosomal DNA, Y-DNA, and mitochondrial DNA to individuals for genealogical purpose. With a database of more than two million records, it is the most popular company worldwide for Y-DNA and mitochondrial DNA, and the fourth most popular for autosomal DNA. In Europe, it is the most common also for autosomal DNA. FamilyTreeDNA was founded based on an idea conceived by Bennett Greenspan, a lifelong entrepreneur and genealogy enthusiast. In 1999, Greenspan had entered semi-retirement and was working on his family history.

Living DNA

After getting DNA tests results from three different companies to know if his "dad's family came from Russia", David Gewirtz says, "the results I got back from Ancestry and 23andMe were shocking and upsetting would be an understatement." While "the results from Living DNA were substantially different and led to some fascinating insights that were actually really cool, rather than painful." *

Genetic Information Nondiscrimination Act

Genetic Information Nondiscrimination Act of 2008Genetic Information Non-discrimination ActGenetic Information Nondiscrimination Act (GINA)
Genealogical DNA test. Gattaca. Genetic privacy. Full text of GINA in its final form from GovTrack. National Human Genome Research Institute (NIH). Coalition for Genetic Fairness., Genetic Information Nondiscrimination Act of 2007., Genomics and Personalized Medicine Act of 2007. Your GINA resource. Genetic Alliance. Genetic Discrimination Saves Lives - Editorial arguing against the bill.

Genographic Project

The Genographic ProjectGeno 2.0 Next GenerationGenographic
This includes supporting, organization and dissemination of personal DNA (genetic) testing. The ISOGG supports citizen participation in genetic research, and believes such volunteers have provided valuable information and research to the professional scientific community. In a 2013 speech to the Southern California Genealogical Society, Wells discussed its encouragement of citizen scientists: Since 2005, the Genographic Project has used the latest genetic technology to expand our knowledge of the human story, and its pioneering use of DNA testing to engage and involve the public in the research effort has helped to create a new breed of "citizen scientist."


deoxyribonucleic aciddouble-stranded DNAdsDNA
Deoxyribonucleic acid (DNA) is a molecule composed of two chains that coil around each other to form a double helix carrying genetic instructions for the development, functioning, growth and reproduction of all known organisms and many viruses. DNA and ribonucleic acid (RNA) are nucleic acids; alongside proteins, lipids and complex carbohydrates (polysaccharides), nucleic acids are one of the four major types of macromolecules that are essential for all known forms of life.

Genetic privacy

genetic datagenetic information privacyprivacy of genetic information
As such, one's genetic code can be used to infer many characteristics about an individual, including many potentially sensitive subjects such as: Many types of direct-to-consumer DNA tests have been released that allow individuals to obtain genetic information from tissue obtained from the mouth, such as a cheek scraping (performed with a swab), an individual's saliva, or chewing gum. One of the most popular reasons for at-home genetic testing is to obtain information on an individual's ancestry via genealogical DNA testing and is offered by many companies such as 23andMe, AncestryDNA, Family Tree DNA, or MyHeritage.


chromosomeschromosomalChromosomal number
Genealogical DNA test. Lampbrush chromosome. List of number of chromosomes of various organisms. Locus (explains gene location nomenclature). Maternal influence on sex determination. Non-disjunction. Sex-determination system. XY sex-determination system. X-chromosome. X-inactivation. Y-chromosome. Y-chromosomal Aaron. Y-chromosomal Adam. Polytene chromosome. Neochromosome. Parasitic chromosome. An Introduction to DNA and Chromosomes from HOPES: Huntington's Outreach Project for Education at Stanford. Chromosome Abnormalities at AtlasGeneticsOncology. On-line exhibition on chromosomes and genome (SIB). What Can Our Chromosomes Tell Us?

Human genome

genomehuman DNAhuman geneticist
These sequences are highly variable, even among closely related individuals, and so are used for genealogical DNA testing and forensic DNA analysis. Repeated sequences of fewer than ten nucleotides (e.g. the dinucleotide repeat (AC) n ) are termed microsatellite sequences. Among the microsatellite sequences, trinucleotide repeats are of particular importance, as sometimes occur within coding regions of genes for proteins and may lead to genetic disorders. For example, Huntington's disease results from an expansion of the trinucleotide repeat (CAG) n within the Huntingtin gene on human chromosome 4.

Gene by Gene

FamilyTreeDNAGene by Gene, Ltd.
Myriad genetics. 23andMe. Pathway Genomics. Mygene. Gene by Gene website. Family Tree DNA Website. DNA Traits website. DNA DTC website. DNA Findings website.


genealogistgenealogicalfamily history
Three DNA types are of particular interest: mitochondrial DNA that we all possess and that is passed down with only minor mutations through the matrilineal (direct female) line; the Y-chromosome, present only in males, which is passed down with only minor mutations through the patrilineal (direct male) line; and the Autosomal DNA, which is found in the 22 non-gender specific chromosomes (autosomes) inherited from both parents, which can uncover relatives from any branch of the family. A genealogical DNA test allows two individuals to find the probability that they are, or are not, related within an estimated number of generations.

Genetic discrimination

Direct-to-consumer genetic testing was first offered in 1997 by GeneTree, a now defunct family history website. These tests are easily accessible on the market and popularized by companies such as 23andMe and These genetic kits are expensive and disproportionately serve wealthy individuals. As a result, when the data collected from testing is sold to research companies, it represents a biased sample of the population. The Food and Drug Administration additionally halted all 23andMe marketing in 2013 over unsubstantiated claims 23andMe made regarding disease diagnosis and prevention.

Carrier testing

carrier testtest
Carrier testing is a type of genetic testing that is used to determine if a person is a carrier for a specific autosomal recessive diseases. This kind of testing is used most often by couples who are considering becoming pregnant to determine the risks of their child inheriting one of these genetic disorders. Genes come in pairs; one from the mother and one from the father. A carrier is a person who inherited one abnormal gene from one of their parents. Carriers often show no symptoms of the genetic disorder that they carry an abnormal gene for. Usually the only time a person finds out that they are a carrier for a specific genetic disorder is when they have an affected child.

Medical test

diagnostic testdiagnostic testsdiagnostic testing
Genetic testing. Blood Glucose testing. Liver function testing. Calcium testing. Testing for electrolytes in the blood, such as Sodium, Potassium, Creatinine, and Urea. Blood tests. Urine tests, including naked eye exam of the urine. Stool tests, including naked eye exam of the feces. Sputum (phlegm), including naked eye exam of the sputum. Accuracy of a laboratory test is its correspondence with the true value. Accuracy is maximized by calibrating laboratory equipment with reference material and by participating in external quality control programs. Precision of a test is its reproducibility when it is repeated on the same sample.

Coeliac disease

celiac diseaseceliac spruecoeliac
Diagnosis is typically made by a combination of blood antibody tests and intestinal biopsies, helped by specific genetic testing. Making the diagnosis is not always straightforward. Frequently, the autoantibodies in the blood are negative, and many people have only minor intestinal changes with normal villi. People may have severe symptoms and be investigated for years before a diagnosis is achieved. Increasingly, the diagnosis is being made in people without symptoms, as a result of screening. Evidence regarding the effects of screening, however, is not sufficient to determine its usefulness.


mutationsgenetic mutationmutated
In biology, a mutation is the alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA.

Buccal swab

buccal smearbuccal smearscheek swab
A buccal swab, also known as buccal smear, is a way to collect DNA from the cells on the inside of a person's cheek. Buccal swabs are a relatively non-invasive way to collect DNA samples for testing. Buccal means cheek or mouth. It is very common in clinical trials and in law enforcement investigations where it can include or exclude individuals as suspects.


Genealogical DNA test. List of genetic genealogy topics. List of haplogroups of notable people. Indian maternal gene pool, Journal of Human Genetics''. Dienekes' Anthropology Blog frequent highlights of new results. Y Chromosome Consortium. ISOGG Y-DNA Haplogroup Tree. PhyloTree's Y-tree A minimal reference phylogeny for the human Y-chromosome. Haplogroup Predictor. The Y Chromosome Consortium (2002), A Nomenclature System for the Tree of Human Y-Chromosomal Binary Haplogroups, Genome Research, Vol. 12(2), 339–48, February 2002. (Detailed hierarchical chart has conversions from previous naming schemes).

Mitochondrial DNA

mtDNAmitochondrialmitochondrial genome
This is usually accomplished on human mitochondrial DNA by sequencing the hypervariable control regions (HVR1 or HVR2), and sometimes the complete molecule of the mitochondrial DNA, as a genealogical DNA test. HVR1, for example, consists of about 440 base pairs. These 440 base pairs are compared to the same regions of other individuals (either specific people or subjects in a database) to determine maternal lineage. Most often, the comparison is made with the revised Cambridge Reference Sequence. Vilà et al. have published studies tracing the matrilineal descent of domestic dogs from wolves.

Bloom syndrome

Bloom's syndrome
The US Food and Drug Administration (FDA) announced on February 19, 2015 that they have authorized marketing of a direct-to-consumer genetic test from 23andMe. The test is designed to identify healthy individuals who carry a gene that could cause Bloom Syndrome in their offspring. Bloom syndrome has no specific treatment; however, avoiding sun exposure and using sunscreens can help prevent some of the cutaneous changes associated with photo-sensitivity. Efforts to minimize exposure to other known environmental mutagens are also advisable. Bloom syndrome is an extremely rare disorder in most populations and the frequency of the disease has not been measured in most populations.


Family Tree Builder
MyHeritage DNA is a genetic testing service launched by MyHeritage in 2016. DNA results are obtained from home test kits, allowing users to use cheek swabs to collect samples. The results provide DNA matching and ethnicity estimates. In 2018, the company offered 5,000 of these kits as part of an initiative to reunite migrant families separated at the United States-Mexico border. The company also offered 15,000 DNA kits as part of a pro bono initiative called DNA Quest, which connected adoptees with biological parents.

Non-paternity event

false paternityfalse-paternitymisattributed fatherhood
The most reliable test for paternity is genetic testing, also known as DNA testing. Requirements for consent and counselling vary by country. However, genetic testing is based on probabilities and is not always definitive. Jones et al. (2010) said, "Characteristics of the markers and the fact that they are analysed by fallible humans can result in inconsistencies that present problems for parentage analysis." False negatives may occur due to low quality samples, gene mutations, or genotyping errors (when a genotype is misread or inaccurately scored). There is a higher probability of accuracy when DNA from both parents can be tested.

DNA profiling

DNA evidenceDNA fingerprintinggenetic fingerprinting
France Tries Mass DNA Test in Hunt for School Rapist.

Bennett Greenspan

Though he has mainly worked in the fields of photography and genetic testing, he is best known for his pioneering work in genetic genealogy. Greenspan founded Family Tree DNA which was the first American company to offer genealogical DNA testing directly to the general public. He is currently the president and chief executive officer (CEO) and also the managing partner of Family Tree DNA's parent company Gene by Gene. Greenspan is also the project administrator of several surname DNA projects, and regularly lectures on the use of genetics in genealogy and on genomics. A Jewish American, Greenspan was born in Omaha, Nebraska to Maurice and Rosalie Greenspan.