The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

TitleThe Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
Publication TypeJournal Article
Year of Publication2012
AuthorsBamshad, MJ, Shendure, JA, Valle, D, Hamosh, A, Lupski, JR, Gibbs, RA, Boerwinkle, E, Lifton, RP, Gerstein, M, Gunel, M, Mane, S, Nickerson, DA
Corporate AuthorsCenters for Mendelian Genomics
JournalAm J Med Genet A
Volume158A
Issue7
Pagination1523-5
Date Published2012 Jul
ISSN1552-4833
KeywordsAcademies and Institutes, Genetic Diseases, Inborn, Genetics, Medical, Genome, Human, Genome-Wide Association Study, Genomics, High-Throughput Nucleotide Sequencing, Humans
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.

DOI10.1002/ajmg.a.35470
Alternate JournalAm J Med Genet A
PubMed ID22628075
PubMed Central IDPMC3702263
Grant ListU54 HG006493 / HG / NHGRI NIH HHS / United States
UM1 HG006504 / HG / NHGRI NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States
HG006493 / HG / NHGRI NIH HHS / United States
HG006542 / HG / NHGRI NIH HHS / United States
U54 HG006504 / HG / NHGRI NIH HHS / United States
UM1 HG006493 / HG / NHGRI NIH HHS / United States
HG006504 / HG / NHGRI NIH HHS / United States