Chargement en cours...

Using whole-exome sequencing to identify variants inherited from mosaic parents

Whole-exome sequencing (WES) has allowed the discovery of genes and variants causing rare human disease. This is often achieved by comparing nonsynonymous variants between unrelated patients, and particularly for sporadic or recessive disease, often identifies a single or few candidate genes for fur...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Rios, Jonathan J, Delgado, Mauricio R
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2015
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4666568/
https://ncbi.nlm.nih.gov/pubmed/24986828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.125
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!