The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions

Abstract

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 . © 2012 Wiley Periodicals, Inc.

Keywords

Affiliated Institutions

• Seattle Children's Hospital US
• University of Washington US
• Johns Hopkins Medicine US
• Johns Hopkins University US
• Baylor Genetics US
• Yale University US
• The University of Texas Health Science Center at Houston US
• Baylor College of Medicine US
• Texas Children's Hospital US

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