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

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

Research output: Contribution to journalComment/debate

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.

Original languageEnglish (US)
Pages (from-to)1523-1525
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number7
DOIs
StatePublished - Jul 1 2012

Keywords

  • Commentary
  • Exome sequencing
  • Mendelian

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Bamshad, M. J., Shendure, J. A., Valle, D., Hamosh, A., Lupski, J. R., Gibbs, R. A., Boerwinkle, E., Lifton, R. P., Gerstein, M., Gunel, M., Mane, S., & Nickerson, D. A. (2012). The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics, Part A, 158 A(7), 1523-1525. https://doi.org/10.1002/ajmg.a.35470