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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
Matèries:
Research Article
Accés en línia: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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