Large-scale human sequencing projects have described around a hundred-million single nucleotide variants (SNVs). These studies have predominately involved individuals with European ancestry despite the fact that genetic diversity is expected to be highest in Africa where Homo sapiens evolved and has maintained a large population for the longest time. The African Genome Variation Project examined several African populations but these were all located south of the Sahara. Morocco is on the northwest coast of Africa and mostly lies north of the Sahara, which makes it very attractive for studying genetic diversity. The ancestry of present-day Moroccans is unknown and may be substantially different from Africans found South of the Sahara desert, Recent genomic data of Taforalt individuals in Eastern Morocco revealed 15,000-year-old modern humans and suggested that North African individuals may be genetically distinct from previously studied African populations. We present SNVs discovered by whole genome sequencing (WGS) of three Moroccans. From a total of 5.9 million SNVs detected, over 200,000 were not identified by 1000G and were not in the extensive gnomAD database. We summarise the SNVs by genomic position, type of sequence gene context and effect on proteins encoded by the sequence. Analysis of the overall genomic information of the Moroccan individuals to individuals from 1000G supports the Moroccan population being distinct from both sub-Saharan African and European populations. We conclude that Moroccan samples are genetically distinct and lie in the middle of the previously observed cline between populations of European and African ancestry. WGS of Moroccan individuals can identify a large number of novel SNVs and aid in functional characterisation of the genome.

中文翻译：

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通过全基因组测序鉴定摩洛哥人群中的单核苷酸变异。


大规模人类测序项目已经描述了大约一亿个单核苷酸变异（SNV）。这些研究主要涉及具有欧洲血统的个体，尽管事实上，遗传多样性预计在非洲是最高的，那里智人进化并在最长时间内维持了大量人口。非洲基因组变异项目检查了几个非洲人群，但这些人群都位于撒哈拉以南。摩洛哥位于非洲西北海岸，大部分位于撒哈拉沙漠以北，这使得它对于研究遗传多样性非常有吸引力。当今摩洛哥人的祖先未知，可能与撒哈拉沙漠以南的非洲人有很大不同，摩洛哥东部塔福拉尔特人的最新基因组数据揭示了 15,000 年前的现代人类，并表明北非人可能在基因上不同来自先前研究的非洲人群。我们展示了通过三名摩洛哥人的全基因组测序 (WGS) 发现的 SNV。在总共检测到的 590 万个 SNV 中，超过 200,000 个未被 1000G 识别，并且不在广泛的 gnomAD 数据库中。我们通过基因组位置、序列基因背景类型以及对序列编码的蛋白质的影响来总结 SNV。对摩洛哥个体至 1000G 个体的整体基因组信息的分析支持摩洛哥人群不同于撒哈拉以南非洲和欧洲人群。我们得出的结论是，摩洛哥样本在遗传上是不同的，并且位于先前观察到的欧洲和非洲血统人群之间的谱系中间。摩洛哥个体的全基因组测序可以识别大量新型 SNV，并有助于基因组的功能表征。