Article
FLAGS, frequently mutated genes in public exomes.
BMC medical genomics - 3 Dec 2014
Shyr Casper, Tarailo-Graovac Maja, Gottlieb Michael, Lee Jessica J Y, van Karnebeek Clara, Wasserman Wyeth W
Abstract excerpt
BACKGROUND: Dramatic improvements in DNA-sequencing technologies and computational analyses have led to wide use of whole exome sequencing (WES) to identify the genetic basis of Mendelian disorders. More than 180 novel rare-disease-causing genes with Mendelian inheritance patterns have been discovered through sequencing the exomes of just a few unrelated individuals or family members. As rare/novel genetic...
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