title: The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
abstract: Next generation exome sequencing (ES) and whole genome sequencing (WGS) are new powerful tools for discovering the gene(s) that underlie Mendelian disorders. To accelerate these discoveries, the National Institutes of Health has established three Centers for Mendelian Genomics (CMGs): the Center for Mendelian Genomics at the University of Washington; the Center for Mendelian Genomics at Yale University; and the Baylor-Johns Hopkins Center for Mendelian Genomics at Baylor College of Medicine and Johns Hopkins University. The CMGs will provide ES/WGS and extensive analysis expertise at no cost to collaborating investigators where the causal gene(s) for a Mendelian phenotype has yet to be uncovered. Over the next few years and in collaboration with the global human genetics community, the CMGs hope to facilitate the identification of the genes underlying a very large fraction of all Mendelian disorders; see http://mendelian.org.
authors.affiliation: Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA. mbamshad@u.washington.edu
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Bamshad
authors.forename: Jay A
authors.initials: JA
authors.lastname: Shendure
authors.forename: David
authors.initials: D
authors.lastname: Valle
authors.forename: Ada
authors.initials: A
authors.lastname: Hamosh
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.forename: Richard A
authors.initials: RA
authors.lastname: Gibbs
authors.forename: Eric
authors.initials: E
authors.lastname: Boerwinkle
authors.forename: Richard P
authors.initials: RP
authors.lastname: Lifton
authors.forename: Mark
authors.initials: M
authors.lastname: Gerstein
authors.forename: Murat
authors.initials: M
authors.lastname: Gunel
authors.forename: Shrikant
authors.initials: S
authors.lastname: Mane
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Nickerson
mesh_terms: D000047:Academies and Institutes; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005826:Genetics, Medical / Q000458:organization & administration* / Q000639:trends; D015894:Genome, Human; D055106:Genome-Wide Association Study; D023281:Genomics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans