Title | The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. |
Publication Type | Journal Article |
Year of Publication | 2012 |
Authors | Bamshad, MJ, Shendure, JA, Valle, D, Hamosh, A, Lupski, JR, Gibbs, RA, Boerwinkle, E, Lifton, RP, Gerstein, M, Gunel, M, Mane, S, Nickerson, DA |
Corporate Authors | Centers for Mendelian Genomics |
Journal | Am J Med Genet A |
Volume | 158A |
Issue | 7 |
Pagination | 1523-5 |
Date Published | 2012 Jul |
ISSN | 1552-4833 |
Keywords | Academies 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. |
DOI | 10.1002/ajmg.a.35470 |
Alternate Journal | Am J Med Genet A |
PubMed ID | 22628075 |
PubMed Central ID | PMC3702263 |
Grant List | U54 HG006493 / HG / NHGRI NIH HHS / United States UM1 HG006504 / HG / NHGRI NIH HHS / United States U54 HG006542 / 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 UM1 HG006542 / HG / NHGRI NIH HHS / United States HG006493 / HG / NHGRI NIH HHS / United States |
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
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