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

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Alleles
• Share to Exome
• Share to Gene Frequency