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大中东地区的基因组景观。

Genomic landscape of the Greater Middle East.

机构信息

Department of Molecular Biology and Genetics, Faculty of Science, Bilkent University, Ankara, Turkey.

出版信息

Nat Genet. 2016 Aug 30;48(9):978-9. doi: 10.1038/ng.3652.


DOI:10.1038/ng.3652
PMID:27573686
Abstract

Study of the Greater Middle East (GME), home to approximately 10% of the world's population, has made invaluable contributions to the characterization of rare genetic disease, especially recessive conditions arising from the tradition of consanguinity and large families with multiple children. A new study now reports 1,111 unrelated exomes from the GME and provides a comprehensive view of genetic variation for enhanced discovery of disease-associated genes.

摘要

对大中东地区(GME)的研究,该地区约占世界人口的 10%,对罕见遗传病特征的描述做出了宝贵的贡献,特别是由于近亲结婚和多子女大家庭传统而导致的隐性疾病。一项新的研究现在报告了来自 GME 的 1,111 个无关外显子组,提供了遗传变异的全面视图,以增强疾病相关基因的发现。

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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

Nat Genet. 2016-9

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