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本文引用的文献

1
Human genome sequencing in health and disease.人类基因组测序在健康与疾病中的应用。
Annu Rev Med. 2012;63:35-61. doi: 10.1146/annurev-med-051010-162644.
2
Exome sequencing as a tool for Mendelian disease gene discovery.外显子组测序作为孟德尔疾病基因发现的工具。
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3
Unlocking Mendelian disease using exome sequencing.利用外显子组测序解锁孟德尔疾病。
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A mosaic activating mutation in AKT1 associated with the Proteus syndrome.AKT1 中的镶嵌激活突变与Proteus 综合征相关。
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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.外显子组测序在散发性自闭症谱系障碍中发现严重的新生突变。
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6
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.肾上腺醛固酮产生腺瘤和遗传性高血压中的 K+ 通道突变。
Science. 2011 Feb 11;331(6018):768-72. doi: 10.1126/science.1198785.
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A de novo paradigm for mental retardation.一种新的智力迟钝范式。
Nat Genet. 2010 Dec;42(12):1109-12. doi: 10.1038/ng.712. Epub 2010 Nov 14.
8
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.鱼鳞病患者中的有丝分裂重组导致 KRT10 显性突变的回复。
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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.全外显子组测序鉴定严重脑畸形的隐性 WDR62 突变。
Nature. 2010 Sep 9;467(7312):207-10. doi: 10.1038/nature09327. Epub 2010 Aug 22.
10
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.对一个先证者进行全基因组测序,并结合连锁分析,可鉴定出孟德尔疾病基因。
PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991.

孟德尔基因组医学中心:一项旨在鉴定罕见孟德尔疾病相关基因的新的大规模计划。

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

机构信息

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.

出版信息

Am J Med Genet A. 2012 Jul;158A(7):1523-5. doi: 10.1002/ajmg.a.35470. Epub 2012 May 24.

DOI:10.1002/ajmg.a.35470
PMID:22628075
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3702263/
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.

摘要

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。