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伊朗人基因组变异目录:伊朗人群中的基因组变异目录。

Iranome: A catalog of genomic variations in the Iranian population.

机构信息

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.

出版信息

Hum Mutat. 2019 Nov;40(11):1968-1984. doi: 10.1002/humu.23880. Epub 2019 Aug 17.

DOI:10.1002/humu.23880
PMID:31343797
Abstract

Considering the application of human genome variation databases in precision medicine, population-specific genome projects are continuously being developed. However, the Middle Eastern population is underrepresented in current databases. Accordingly, we established Iranome database (www.iranome.com) by performing whole exome sequencing on 800 individuals from eight major Iranian ethnic groups representing the second largest population of Middle East. We identified 1,575,702 variants of which 308,311 were novel (19.6%). Also, by presenting higher frequency for 37,384 novel or known rare variants, Iranome database can improve the power of molecular diagnosis. Moreover, attainable clinical information makes this database a good resource for classifying pathogenicity of rare variants. Principal components analysis indicated that, apart from Iranian-Baluchs, Iranian-Turkmen, and Iranian-Persian Gulf Islanders, who form their own clusters, rest of the population were genetically linked, forming a super-population. Furthermore, only 0.6% of novel variants showed counterparts in "Greater Middle East Variome Project", emphasizing the value of Iranome at national level by releasing a comprehensive catalog of Iranian genomic variations and also filling another gap in the catalog of human genome variations at international level. We introduce Iranome as a resource which may also be applicable in other countries located in neighboring regions historically called Greater Iran (Persia).

摘要

考虑到人类基因组变异数据库在精准医学中的应用,不断有针对特定人群的基因组项目正在开展。然而,目前的数据库中对中东人群的代表性不足。因此,我们通过对来自八个主要伊朗族群的 800 个人进行外显子组测序,建立了 Iranome 数据库(www.iranome.com)。我们在数据库中鉴定了 1,575,702 个变异,其中 308,311 个是新发现的(19.6%)。此外,通过呈现 37,384 个新的或已知的罕见变异的更高频率,Iranome 数据库可以提高分子诊断的效力。此外,可获得的临床信息使该数据库成为分类罕见变异致病性的良好资源。主成分分析表明,除了伊朗俾路支人、伊朗土库曼人、伊朗波斯湾岛民自成聚类外,其余人群在遗传上相互关联,形成了一个超级群体。此外,只有 0.6%的新变异在“大中东变异组计划”中存在对应物,这凸显了 Iranome 的价值,它不仅在国家层面上发布了伊朗基因组变异的综合目录,还填补了人类基因组变异目录在国际层面上的另一个空白。我们介绍 Iranome 作为一个资源,它也可能适用于历史上被称为大伊朗(波斯)的邻近地区的其他国家。

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