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

ABSTRACT: 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 further consideration. However, despite the potential for this approach to elucidate the genetic cause of rare human disease, a majority of patients fail to realize a genetic diagnosis using standard exome analysis methods. Although genetic heterogeneity contributes to the difficulty of exome sequence analysis between patients, it remains plausible that rare human disease is not caused by de novo or recessive variants. Multiple human disorders have been described for which the variant was inherited

SUBMITTER: Rios JJ 

PROVIDER: S-EPMC4666568 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature