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. 2020 Dec 28;12(1):116.
doi: 10.1186/s13073-020-00821-7.

Genetic variation in the Middle East-an opportunity to advance the human genetics field

Ahmad N Abou Tayoun  1   2 , Heidi L Rehm  3   4   5
Affiliations

Genetic variation in the Middle East-an opportunity to advance the human genetics field

Ahmad N Abou Tayoun et al. Genome Med. .

Abstract

We highlight the current lack of representation of the Middle East from large genomic studies and emphasize the expected high impact of cataloging its variation. We discuss the limiting factors and possible solutions to generating and accessing research and clinical sequencing data from this part of the world.

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Conflict of interest statement

Rehm declares a pending NIH grant from the National Human Genome Research Institute to support gnomAD. The remaining author declares that he has no competing interests.

Figures

Fig. 1
Fig. 1
Genomic data representation. Top, Distribution of sample ancestries in the GWAS Catalog as of June 14, 2020 [5]. Middle, Distribution of sample ancestries in the Genome Aggregation Database (gnomAD v2.1) [1] and the Greater Middle East (GME) variome [6] studies. Bottom, Human knockouts (KOs) or the number of genes with homozygous loss of function (LoF) variant(s) in exomes from individuals of the Greater Middle East [6], Pakistan [7], and gnomAD v2.1 [1]. Circle size correlates with a fraction of the number of KOs in a given sample size. F = coefficient of inbreeding
See this image and copyright information in PMC

References

    1. Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang Q, et al. The mutational constraint spectrum from variation in 141,456 humans. Nature. 2020;581:434–443. doi: 10.1038/s41586-020-2308-7. - DOI - PMC - PubMed
    1. Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, et al. Evaluating drug targets through human loss-of-function genetic variation. Nature. 2020;581:459–464. doi: 10.1038/s41586-020-2267-z. - DOI - PMC - PubMed
    1. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,606 humans. Nature. 2016;536:285–291. doi: 10.1038/nature19057. - DOI - PMC - PubMed
    1. Fu W, O’Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, et al. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature. 2013;493:216–220. doi: 10.1038/nature11690. - DOI - PMC - PubMed
    1. Mills MC, Rahal C. The GWAS diversity monitor tracks diversity by disease in real time. Nat Genet. 2020;52:242–243. doi: 10.1038/s41588-020-0580-y. - DOI - PubMed

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