Article
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
The New England journal of medicine - 17 Oct 2013
Yang Yaping, Muzny Donna M, Reid Jeffrey G, Bainbridge Matthew N, Willis Alecia, Ward Patricia A, Braxton Alicia, Beuten Joke, Xia Fan, Niu Zhiyv, Hardison Matthew, Person Richard, Bekheirnia Mir Reza, Leduc Magalie S, Kirby Amelia, Pham Peter, Scull Jennifer, Wang Min, Ding Yan, Plon Sharon E, Lupski James R, Beaudet Arthur L, Gibbs Richard A, Eng Christine M
Abstract excerpt
BACKGROUND: Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders. METHODS: We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing in a certified clinical laboratory to identify sequence variants underlying disease phenotypes in patients. RESULTS: We present data on the first 250...
Topics
- Adolescent
- Child
- Child, Preschool
- Exome
- Genes, Dominant
- Genes, Recessive
- Genes, X-Linked
- Genetic Diseases, Inborn
- Genetic Testing