Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing
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RESEARCH ARTICLE
Open Access
Identification of single nucleotide variants in the Moroccan population by wholegenome sequencing Lucy Crooks1, Johnathan Cooper-Knock2, Paul R. Heath2, Ahmed Bouhouche3, Mostafa Elfahime4, Mimoun Azzouz2, Youssef Bakri5, Mohammed Adnaoui6, Azeddine Ibrahimi7, Saaïd Amzazi5 and Rachid Tazi-Ahnini6,8*
Abstract Background: 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. Results: 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. Conclusions: 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. Keywords: Whole genome sequencing, Population genomics, Africa, SNVs
* Correspondence: [email protected] 6 Medical School and Pharmacy, Mohammed V University, Rabat, Morocco 8 Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield S10 2RX, UK Full list of author information is available at the end of the article
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