Article
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
PLoS genetics - 17 Jun 2010
Sobreira Nara L M, Cirulli Elizabeth T, Avramopoulos Dimitrios, Wohler Elizabeth, Oswald Gretchen L, Stevens Eric L, Ge Dongliang, Shianna Kevin V, Smith Jason P, Maia Jessica M, Gumbs Curtis E, Pevsner Jonathan, Thomas George, Valle David, Hoover-Fong Julie E, Goldstein David B
Abstract excerpt
Although more than 2,400 genes have been shown to contain variants that cause Mendelian disease, there are still several thousand such diseases yet to be molecularly defined. The ability of new whole-genome sequencing technologies to rapidly indentify most of the genetic variants in any given genome opens an exciting opportunity to identify these disease genes. Here we sequenced the whole genome of a single...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.