Article
Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing.
BMC genomics - 6 Dec 2012
Ramos Enrique, Levinson Benjamin T, Chasnoff Sara, Hughes Andrew, Young Andrew L, Thornton Katherine, Li Allie, Vallania Francesco L M, Province Michael, Druley Todd E
Abstract excerpt
BACKGROUND: Rare genetic variation in the human population is a major source of pathophysiological variability and has been implicated in a host of complex phenotypes and diseases. Finding disease-related genes harboring disparate functional rare variants requires sequencing of many individuals across many genomic regions and comparing against unaffected cohorts. However, despite persistent declines in sequencing...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.