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The GenoChip: A New Tool for Genetic Anthropology

Authors: Elhaik E; Greenspan E; Staats S; Krahn T; Tyler-Smith C; Xue Y; Tofanelli S; +47 Authors

The GenoChip: A New Tool for Genetic Anthropology

Abstract

The Genographic Project is an international effort aimed at charting human migratory history. The project is nonprofit and nonmedical, and, through its Legacy Fund, supports locally led efforts to preserve indigenous and traditional cultures. Although the first phase of the project was focused on uniparentally inherited markers on the Y-chromosome and mitochondrial DNA (mtDNA), the current phase focuses on markers from across the entire genome to obtain a more complete understanding of human genetic variation. Although many commercial arrays exist for genome-wide single-nucleotide polymorphism (SNP) genotyping, they were designed for medical genetic studies and contain medically related markers that are inappropriate for global population genetic studies. GenoChip, the Genographic Project's new genotyping array, was designed to resolve these issues and enable higher resolution research into outstanding questions in genetic anthropology. The GenoChip includes ancestry informative markers obtained for over 450 human populations, an ancient human (Saqqaq), and two archaic hominins (Neanderthal and Denisovan) and was designed to identify all known Y-chromosome and mtDNA haplogroups. The chip was carefully vetted to avoid inclusion of medically relevant markers. To demonstrate its capabilities, we compared the FST distributions of GenoChip SNPs to those of two commercial arrays. Although all arrays yielded similarly shaped (inverse J) FST distributions, the GenoChip autosomal and X-chromosomal distributions had the highest mean FST, attesting to its ability to discern subpopulations. The chip performances are illustrated in a principal component analysis for 14 worldwide populations. In summary, the GenoChip is a dedicated genotyping platform for genetic anthropology. With an unprecedented number of approximately 12,000 Y-chromosomal and approximately 3,300 mtDNA SNPs and over 130,000 autosomal and X-chromosomal SNPs without any known health, medical, or phenotypic relevance, the GenoChip is a useful tool for genetic anthropology and population genetics.

Countries
Spain, Italy, Spain
Keywords

Genètica humana, Genètica de poblacions, Letter, Genetic anthropology; GenoChip; genographic project; population genetics; AimsFinder; haplogroups, Human Migration, population genetics, DNA, Mitochondrial, Polymorphism, Single Nucleotide, genetic anthropology, AimsFinder, Aimsfinder; Genetic anthropology; GenoChip; Genographic project; Haplogroups; Population genetics; DNA, mitochondrial; Genes, Y-Linked; History, ancient; Human Genome Project; Human migration; Humans; Polymorphism, single nucleotide; Anthropology, cultural; Oligonucleotide array sequence analysis; Ecology, evolution, behavior and systematics; Genetics, Genes, Y-Linked, haplogroups, Human Genome Project, Humans, Genographic Project, Antropologia, Anthropology, Cultural, History, Ancient, GenoChip, Oligonucleotide Array Sequence Analysis

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    influence
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
55
Top 10%
Top 10%
Top 10%
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gold