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.

译文

中东和北非 (MENA) 涵盖了非常独特的人口,具有丰富的历史,并包含了独特的种族,语言和遗传多样性。MENA地区的遗传多样性在很大程度上是未知的。该地区最近获得的全外显子组和全基因组序列使收集特定人群的等位基因频率成为可能。来自该地区的数据集的整合将提供对该地区遗传变异景观的见解。我们系统地整合了来自该地区的多个数据集的遗传变异,以创建超过2600万个遗传变异的汇编。对变体进行了系统注释,并计算了它们在数据集中的等位基因频率,并可以作为web界面使用,从而可以快速查询。作为遗传流行病学学纲要应用原理的证明,我们分析了转谷氨酰胺酶1 (TGM1) 基因变异的等位基因频率,与常染色体隐性层状鱼鳞病有关。我们的分析表明,所选变体的载波频率差异很大,种族间差异很大。据我们所知,al mena是来自阿拉伯,中东和北非地区的第一个也是最全面的遗传变异库。我们希望al mena能够加快该地区的精准医学。

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