Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing

CROOKS, Lucy, COOPER-KNOCK, Johnathan, HEATH, Paul R., BOUHOUCHE, Ahmed, ELFAHIME, Mostafa, AZZOUZ, Mimoun, BAKRI, Youssef, ADNAOUI, Mohammed, IBRAHIMI, Azeddine, AMZAZI, Saaïd and TAZI-AHNINI, Rachid (2020). Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing. BMC Genetics, 21 (1), p. 111.

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Open Access URL: https://bmcgenet.biomedcentral.com/articles/10.118...
Link to published version:: https://doi.org/10.1186/s12863-020-00917-4
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    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.

    Item Type: Article
    Additional Information: ** From Springer Nature via Jisc Publications Router ** Licence for this article: https://creativecommons.org/licenses/by/4.0/ **Journal IDs: eissn 1471-2156 **Article IDs: publisher-id: s12863-020-00917-4; manuscript: 917 **History: collection 12-2020; online 21-09-2020; published_online 21-09-2020; registration 08-09-2020; accepted 08-09-2020; submitted 23-02-2020
    Uncontrolled Keywords: Research Article, Human population genetics, Whole genome sequencing, Population genomics, Africa, SNVs
    Identification Number: https://doi.org/10.1186/s12863-020-00917-4
    Page Range: p. 111
    SWORD Depositor: Colin Knott
    Depositing User: Colin Knott
    Date Deposited: 23 Sep 2020 10:45
    Last Modified: 23 Sep 2020 10:45
    URI: http://shura.shu.ac.uk/id/eprint/27277

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