Genetic genealogy

genetic ancestryGeneticgenetic genealogist
In 2000, Family Tree DNA, founded by Bennett Greenspan and Max Blankfeld, was the first company dedicated to direct-to-consumer testing for genealogy research. 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.

Genographic Project

The Genographic ProjectGeno 2.0 Next GenerationGenographic
GenoChip is specifically designed for anthropological testing and includes SNPs from autosomal DNA, X-chromosome DNA, Y-chromosome DNA and mitochondrial DNA (mtDNA). The design of the new chip was a collaborative effort between Wells of National Geographic, Eran Elhaik of Johns Hopkins, Family Tree DNA, and Illumina. In the fall of 2015, a new chip was designed as a joint effort between Vilar, current Genographic Lead Scientist, and Family Tree DNA. In the spring of 2019, it was announced the Geno project has ended but results will still be up until 2020.


deoxyribonucleic aciddouble-stranded DNAdsDNA
Bioinformatics involves the development of techniques to store, data mine, search and manipulate biological data, including DNA nucleic acid sequence data. These have led to widely applied advances in computer science, especially string searching algorithms, machine learning, and database theory. String searching or matching algorithms, which find an occurrence of a sequence of letters inside a larger sequence of letters, were developed to search for specific sequences of nucleotides. The DNA sequence may be aligned with other DNA sequences to identify homologous sequences and locate the specific mutations that make them distinct.

Illumina, Inc.

IlluminaSolexaIllumina (company)
The company Grail uses Illumina sequencing technology for tests. The company plans to roll out the tests by 2019, with a cost of $500 per individual. In November 2018, the company proposed the acquisition of Pacific Biosciences for $8.00 per share or around $1.2 billion in total. Illumina sells a number of high-throughput DNA sequencing systems, also known as DNA sequencers, based on technology developed by Solexa. The technology features bridge amplification to generate clusters and reversible terminators for sequence determination.

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.

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.


chromosomeschromosomalChromosomal number
It is located around the centromere and usually contains repetitive sequences.

Human genome

genomehuman DNAhuman geneticist
Repetitive DNA sequences comprise approximately 50% of the human genome. About 8% of the human genome consists of tandem DNA arrays or tandem repeats, low complexity repeat sequences that have multiple adjacent copies (e.g. "CAGCAGCAG..."). The tandem sequences may be of variable lengths, from two nucleotides to tens of nucleotides. 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.

Gene by Gene

FamilyTreeDNAGene by Gene, Ltd.
Gene by Gene is a commercial genetic testing company based in Houston, Texas. The company is owned by Bennett Greenspan and Max Blankfeld, and is the parent company of Family Tree DNA. Genealogy by Genetics, Ltd. was formed in 2000 with the creation of Family Tree DNA. In September 2012, Greenspan and Blankfeld restructured the company and renamed it Gene by Gene, Ltd. After restructuring, the business comprises four divisions; DNA DTC, DNA Findings, DNA Traits, and Family Tree DNA. Family Tree DNA was the first commercial company to develop DNA testing for genealogical purposes. It has been operational since April 2000.

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.
AncestryDNA offers a direct-to-consumer genealogical DNA test. Consumers provide a sample of their DNA to the company for analysis. AncestryDNA then uses DNA sequences to infer family relationships with other Ancestry DNA users and to provide what it calls an "ethnicity estimate". Previously, also offered paternal Y-chromosome DNA and maternal mitochondrial DNA tests, but those were discontinued in June 2014. The company describes the technical process of testing in a scientific white paper. In May 2019 the company claimed that their database contained 15 million completed DNA kits bought by customers.

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.

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." *

Whole genome sequencing

genome sequencingfull genome sequencingsequenced
When an individual undergoes whole genome sequencing, they reveal information about not only their own DNA sequences, but also about probable DNA sequences of their close genetic relatives. This information can further reveal useful predictive information about relatives' present and future health risks. Hence, there are important questions about what obligations, if any, are owed to the family members of the individuals who are undergoing genetic testing.


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.

Single-nucleotide polymorphism

single nucleotide polymorphismSNPSNPs
Haplotype mapping: sets of alleles or DNA sequences can be clustered so that a single SNP can identify many linked SNPs. Linkage disequilibrium (LD), a term used in population genetics, indicates non-random association of alleles at two or more loci, not necessarily on the same chromosome. It refers to the phenomenon that SNP allele or DNA sequence that are close together in the genome tend to be inherited together. LD is affected by two parameters: 1) The distance between the SNPs [the larger the distance, the lower the LD]. 2) Recombination rate [the lower the recombination rate, the higher the LD].

DNA profiling

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


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).


mutationsgenetic mutationmutated
In yeast, a combined mutagenesis and deep sequencing approach has been developed to generate high-quality systematic mutant libraries and measure fitness in high throughput. However, given that many mutations have effects too small to be detected and that mutagenesis experiments can detect only mutations of moderately large effect; DNA sequence data analysis can provide valuable information about these mutations. * Molecular sequence analysis: With rapid development of DNA sequencing technology, an enormous amount of DNA sequence data is available and even more is forthcoming in the future. Various methods have been developed to infer the DFE from DNA sequence data.

Personalized medicine

personalised medicinetheranosticstheranostic
Genotyping is the process of obtaining an individual's DNA sequence by using biological assays. By having a detailed account of an individual's DNA sequence, their genome can then be compared to a reference genome, like that of the Human Genome Project, to assess the existing genetic variations that can account for possible diseases. A number of private companies, such as 23andMe, Navigenics, and Illumina, have created Direct-to-Consumer genome sequencing accessible to the public. Having this information from individuals can then be applied to effectively treat them.


short tandem repeatmicrosatellitesSTR
Paternally inherited Y-STRs (microsatellites on the Y chromosome) are often used in genealogical DNA testing. During the 1990s and the first several years of this millenium, microsatellites were the workhorse genetic markers for genome-wide scans to locate any gene responsible for a given phenotype or disease, using segregation observations across generations of a sampled pedigree. Although the rise of higher throughput and cost-effective single-nucleotide polymorphism (SNP) platforms led to the era of the SNP for genome scans, microsatellites remain highly informative measures of genomic variation for linkage and association studies.


autosomalautosomal DNAautosomes
An autosome is a chromosome that is not an allosome (a sex chromosome). The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome pairs which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA.


genomesgenetic materialgenomic
List of sequenced animal genomes. List of sequenced archaeal genomes. List of sequenced bacterial genomes. List of sequenced eukaryotic genomes. List of sequenced fungi genomes. List of sequenced plant genomes. List of sequenced plastomes. List of sequenced protist genomes. Metagenomics. Microbiome. Molecular epidemiology. Molecular pathological epidemiology. Molecular pathology. Nucleic acid sequence. Pan-genome. Precision medicine. Sequenceome. Whole genome sequencing. UCSC Genome Browser – view the genome and annotations for more than 80 organisms. Build a DNA Molecule. Some comparative genome sizes. DNA Interactive: The History of DNA Science.

DNA paternity testing

paternity testpaternity testingDNA paternity test
Comparing the DNA sequence of an individual to that of another individual can show whether one of them was derived from the other. However, DNA paternity tests are not currently 100% accurate. Specific sequences are usually looked at to see whether they were copied verbatim from one of the individual's genome to the other. If that was the case, then the genetic material of one individual could have been derived from that of the other (i.e. one is the parent of the other). Besides the nuclear DNA in the nucleus, the mitochondria in the cells also have their own genetic material termed the mitochondrial DNA. Mitochondrial DNA comes only from the mother, without any shuffling.

National Institutes of Health

NIHNational Institute of HealthNational Institutes of Health (NIH)
The National Institutes of Health (NIH) (each letter separately) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late 1870s, and is now part of the United States Department of Health and Human Services. The majority of NIH facilities are located in Bethesda, Maryland. The NIH conducts its own scientific research through its Intramural Research Program (IRP) and provides major biomedical research funding to non-NIH research facilities through its Extramural Research Program.