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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...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Rios, Jonathan J, Delgado, Mauricio R
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
Fag:
Online adgang: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
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