Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans

Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans

Whole-exome or gene targeted resequencing in hundreds to thousands of individuals has shown that the majority of genetic variants are at low frequency in human populations. Rare variants are enriched for functional mutations and are expected to explain an important fraction of the genetic etiology o...

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Bibliografski detalji
Glavni autori: Ferrán Casals, Alan Hodgkinson, Julie Hussin, Youssef Idaghdour, Vanessa Bruat, Thibault de Maillard, Jean‐Christophe Grenier, Elias Gbeha, Fadi F. Hamdan, Simon Girard, Jean-François Spinella, Mathieu Larivière, Virginie Saillour, Jasmine Healy, Isabel Fernández, Daniel Sinnett, Jacques L. Michaud, Guy A. Rouleau, Élie Haddad, Françoise Le Deist, Philip Awadalla
Format: Artigo
Jezik:engleski
Izdano: 2013
Online pristup:https://doi.org/10.1371/journal.pgen.1003815
https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003815&type=printable
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https://doi.org/10.1371/journal.pgen.1003815
https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003815&type=printable

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