Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.
Am J Med Genet A. 2012 Jul;158A(7):1523-5. doi: 10.1002/ajmg.a.35470. Epub 2012 May 24.
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.
下一代外显子组测序 (ES) 和全基因组测序 (WGS) 是发现孟德尔疾病相关基因的新有力工具。为了加速这些发现,美国国立卫生研究院已经建立了三个孟德尔基因组学中心 (CMGs):华盛顿大学的孟德尔基因组学中心;耶鲁大学的孟德尔基因组学中心;以及贝勒医学院和约翰霍普金斯大学的贝勒-约翰霍普金斯孟德尔基因组学中心。CMGs 将在尚未发现孟德尔表型的因果基因的情况下,向合作研究人员免费提供 ES/WGS 和广泛的分析专业知识。在未来几年内,CMGs 将与全球人类遗传学社区合作,希望能够促进确定所有孟德尔疾病中很大一部分疾病的相关基因;请访问 http://mendelian.org。