A Comprehensive Analysis of 3 Moroccan Genomes Revealed Contributions From Both African and European Ancestries.

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-02-06 eCollection Date: 2024-01-01 DOI:10.1177/11769343241229278

Nasma Boumajdi, Houda Bendani, Souad Kartti, Tarek Alouane, Lahcen Belyamani, Azeddine Ibrahimi

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引用次数: 0

Abstract

Genetic variations in the human genome represent the differences in DNA sequence within individuals. This highlights the important role of whole human genome sequencing which has become the keystone for precision medicine and disease prediction. Morocco is an important hub for studying human population migration and mixing history. This study presents the analysis of 3 Moroccan genomes; the variant analysis revealed 6 379 606 single nucleotide variants (SNVs) and 1 050 577 small InDels. Of those identified SNVs, 219 152 were novel, with 1233 occurring in coding regions, and 5580 non-synonymous single nucleotide variants (nsSNP) variants were predicted to affect protein functions. The InDels produced 1055 coding variants and 454 non-3n length variants, and their size ranged from -49 and 49 bp. We further analysed the gene pathways of 8 novel coding variants found in the 3 genomes and revealed 5 genes involved in various diseases and biological pathways. We found that the Moroccan genomes share 92.78% of African ancestry, and 92.86% of Non-Finnish European ancestry, according to the gnomAD database. Then, population structure inference, by admixture analysis and network-based approach, revealed that the studied genomes form a mixed population structure, highlighting the increased genetic diversity in Morocco.

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对 3 个摩洛哥人基因组的综合分析表明，非洲和欧洲血统都有贡献。

人类基因组中的遗传变异代表着个体内部 DNA 序列的差异。这凸显了人类全基因组测序的重要作用，它已成为精准医疗和疾病预测的基石。摩洛哥是研究人类人口迁移和混合历史的重要枢纽。本研究对 3 个摩洛哥基因组进行了分析；变异分析发现了 6 379 606 个单核苷酸变异（SNVs）和 1 050 577 个小 InDels。在这些已确定的 SNVs 中，219 152 个是新的，其中 1233 个发生在编码区，5580 个非同义单核苷酸变异（nsSNP）预计会影响蛋白质功能。InDels 产生了 1055 个编码变异和 454 个非 3n 长度变异，其大小在 -49 和 49 bp 之间。我们进一步分析了 3 个基因组中发现的 8 个新型编码变异的基因通路，发现了 5 个涉及各种疾病和生物通路的基因。根据 gnomAD 数据库，我们发现摩洛哥人的基因组有 92.78% 的非洲血统和 92.86% 的非芬兰欧洲血统。然后，通过混杂分析和基于网络的方法进行种群结构推断，发现所研究的基因组形成了混合种群结构，凸显了摩洛哥遗传多样性的增加。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.