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al mena:一个整合了阿拉伯、中东和北非人群基因组和外显子组的人类遗传变异综合资源。

al mena: a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations.

机构信息

GN Ramachandran Knowledge Center for Genome Informatics, CSIR-Institute of Genomics and Integrative Biology, Delhi, India.

The Academy of Scientific and Innovative Research (AcSIR), CSIR-Institute of Genomics and Integrative Biology, Delhi, India.

出版信息

J Hum Genet. 2017 Oct;62(10):889-894. doi: 10.1038/jhg.2017.67. Epub 2017 Jun 22.

DOI:10.1038/jhg.2017.67
PMID:28638141
Abstract

Middle East and North Africa (MENA) encompass very unique populations, with a rich history and encompasses characteristic ethnic, linguistic and genetic diversity. The genetic diversity of MENA region has been largely unknown. The recent availability of whole-exome and whole-genome sequences from the region has made it possible to collect population-specific allele frequencies. The integration of data sets from this region would provide insights into the landscape of genetic variants in this region. We integrated genetic variants from multiple data sets systematically, available from this region to create a compendium of over 26 million genetic variations. The variants were systematically annotated and their allele frequencies in the data sets were computed and available as a web interface which enables quick query. As a proof of principle for application of the compendium for genetic epidemiology, we analyzed the allele frequencies for variants in transglutaminase 1 (TGM1) gene, associated with autosomal recessive lamellar ichthyosis. Our analysis revealed that the carrier frequency of selected variants differed widely with significant interethnic differences. To the best of our knowledge, al mena is the first and most comprehensive repertoire of genetic variations from the Arab, Middle Eastern and North African region. We hope al mena would accelerate Precision Medicine in the region.

摘要

中东和北非(MENA)地区拥有独特的人群,拥有丰富的历史,涵盖了独特的种族、语言和遗传多样性。该地区的遗传多样性在很大程度上是未知的。最近,该地区提供了全外显子组和全基因组序列,使得收集特定于人群的等位基因频率成为可能。整合来自该地区的数据集将深入了解该地区遗传变异的格局。我们系统地整合了来自该地区多个数据集的遗传变异,创建了一个包含超过 2600 万个遗传变异的综合数据库。这些变异被系统地注释,并计算了它们在数据集中的等位基因频率,可作为一个网络界面提供快速查询。作为该综合数据库在遗传流行病学中应用的原理验证,我们分析了与常染色体隐性层状鱼鳞癣相关的转谷氨酰胺酶 1(TGM1)基因中变体的等位基因频率。我们的分析表明,选定变体的携带频率差异很大,存在显著的种族间差异。据我们所知,al mena 是第一个也是最全面的阿拉伯、中东和北非地区遗传变异综合数据库。我们希望 al mena 能够加速该地区的精准医学。

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