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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Главные авторы: Casals, Ferran, Hodgkinson, Alan, Hussin, Julie, Idaghdour, Youssef, Bruat, Vanessa, de Maillard, Thibault, Grenier, Jean-Cristophe, Gbeha, Elias, Hamdan, Fadi F., Girard, Simon, Spinella, Jean-François, Larivière, Mathieu, Saillour, Virginie, Healy, Jasmine, Fernández, Isabel, Sinnett, Daniel, Michaud, Jacques L., Rouleau, Guy A., Haddad, Elie, Le Deist, Françoise, Awadalla, Philip
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2013
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3784517/
https://ncbi.nlm.nih.gov/pubmed/24086152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003815
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