Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a foun...
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans
About this item
Full title
Author / Creator
Casals, Ferran , Hodgkinson, Alan , Hussin, Julie , Idaghdour, Youssef , Bruat, Vanessa , de Maillard, Thibault , Grenier, Jean-Christophe , 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 and Awadalla, Philip
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
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 of human disease, therefore having a potential medi...
Alternative Titles
Full title
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans
Authors, Artists and Contributors
Author / Creator
Hodgkinson, Alan
Hussin, Julie
Idaghdour, Youssef
Bruat, Vanessa
de Maillard, Thibault
Grenier, Jean-Christophe
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1442463399
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1442463399
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1003815
