Title |
The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions
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Published in |
American Journal of Medical Genetics. Part A, May 2012
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DOI | 10.1002/ajmg.a.35470 |
Pubmed ID | |
Authors |
Michael J. Bamshad, Jay A. Shendure, David Valle, Ada Hamosh, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, Richard P. Lifton, Mark Gerstein, Murat Gunel, Shrikant Mane, Deborah A. Nickerson, on behalf of the Centers for Mendelian Genomics |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
France | 2 | 29% |
United Kingdom | 2 | 29% |
United States | 1 | 14% |
Unknown | 2 | 29% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 4 | 57% |
Scientists | 3 | 43% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 2% |
Italy | 1 | <1% |
France | 1 | <1% |
United Kingdom | 1 | <1% |
Hong Kong | 1 | <1% |
Unknown | 103 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 32 | 29% |
Student > Ph. D. Student | 25 | 23% |
Student > Master | 8 | 7% |
Student > Bachelor | 8 | 7% |
Professor | 6 | 6% |
Other | 19 | 17% |
Unknown | 11 | 10% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 37 | 34% |
Medicine and Dentistry | 22 | 20% |
Biochemistry, Genetics and Molecular Biology | 18 | 17% |
Engineering | 3 | 3% |
Computer Science | 2 | 2% |
Other | 11 | 10% |
Unknown | 16 | 15% |