Article
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data.
PLoS genetics - 1 Oct 2015
Dewey Frederick E, Grove Megan E, Priest James R, Waggott Daryl, Batra Prag, Miller Clint L, Wheeler Matthew, Zia Amin, Pan Cuiping, Karzcewski Konrad J, Miyake Christina, Whirl-Carrillo Michelle, Klein Teri E, Datta Somalee, Altman Russ B, Snyder Michael, Quertermous Thomas, Ashley Euan A
Abstract excerpt
High throughput sequencing has facilitated a precipitous drop in the cost of genomic sequencing, prompting predictions of a revolution in medicine via genetic personalization of diagnostic and therapeutic strategies. There are significant barriers to realizing this goal that are related to the difficult task of interpreting personal genetic variation. A comprehensive, widely accessible application for...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.