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Article

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.

Nature - 10 Jan 2013

Fu Wenqing, O'Connor Timothy D, Jun Goo, Kang Hyun Min, Abecasis Goncalo, Leal Suzanne M, Gabriel Stacey, Rieder Mark J, Altshuler David, Shendure Jay, Nickerson Deborah A, Bamshad Michael J, Akey Joshua M

Abstract excerpt

Establishing the age of each mutation segregating in contemporary human populations is important to fully understand our evolutionary history and will help to facilitate the development of new approaches for disease-gene discovery. Large-scale surveys of human genetic variation have reported signatures of recent explosive population growth, notable for an excess of rare genetic variants, suggesting that many...

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PMID: 23201682
DOI: 10.1038/nature11690
PMCID: PMC3676746

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