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AuthorMbarek, Hamdi
AuthorDevadoss Gandhi, Geethanjali
AuthorSelvaraj, Senthil
AuthorAl-Muftah, Wadha
AuthorBadji, Radja
AuthorAl-Sarraj, Yasser
AuthorSaad, Chadi
AuthorDarwish, Dima
AuthorAlvi, Muhammad
AuthorFadl, Tasnim
AuthorYasin, Heba
AuthorAlkuwari, Fatima
AuthorRazali, Rozaimi
AuthorAamer, Waleed
AuthorAbbaszadeh, Fatemeh
AuthorAhmed, Ikhlak
AuthorMokrab, Younes
AuthorSuhre, Karsten
AuthorAlbagha, Omar
AuthorFakhro, Khalid
AuthorBadii, Ramin
AuthorIsmail, Said I.
AuthorAlthani, Asma
Available date2023-03-27T07:35:56Z
Publication Date2022-04-01
Publication NameHuman Mutation
Identifierhttp://dx.doi.org/10.1002/humu.24336
CitationMbarek, H., Devadoss Gandhi, G., Selvaraj, S., Al-Muftah, W., Badji, R., Al-Sarraj, Y., Saad, C., Darwish, D., Alvi, M., Fadl, T., Yasin, H., Alkuwari, F., Razali, R., Aamer, W., Abbaszadeh, F., Ahmed, I., Mokrab, Y., Suhre, K., & Albagha, O. (2022). Qatar genome: Insights on genomics from the Middle East. Human Mutation, 43, 499– 510. https://doi.org/10.1002/humu.24336
ISSN10597794
URIhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85128001196&origin=inward
URIhttp://hdl.handle.net/10576/41331
AbstractDespite recent biomedical breakthroughs and large genomic studies growing momentum, the Middle Eastern population, home to over 400 million people, is underrepresented in the human genome variation databases. Here we describe insights from Phase 1 of the Qatar Genome Program with whole genome sequenced 6047 individuals from Qatar. We identified more than 88 million variants of which 24 million are novel and 23 million are singletons. Consistent with the high consanguinity and founder effects in the region, we found that several rare deleterious variants were more common in the Qatari population while others seem to provide protection against diseases and have shaped the genetic architecture of adaptive phenotypes. These results highlight the value of our data as a resource to advance genetic studies in the Arab and neighboring Middle Eastern populations and will significantly boost the current efforts to improve our understanding of global patterns of human variations, human history, and genetic contributions to health and diseases in diverse populations.
SponsorThe Qatar Genome Program (QGP) and Qatar Biobank (QBB) are both Research and Development entities within Qatar Foundation for Education, Science and Community Development. The authors are thankful for everyone who contributed to this endeavor including the QGP and QBB team members, in addition to our partners at Hamad Medical Corporation (HMC), Sidra Medicine and other national stakeholders. The authors would like to especially thank all participants in this study for their continuous support.
Languageen
PublisherWiley
SubjectArab ancestry
diversity
genetics
large-scale sequencing
Middle East
TitleQatar genome: Insights on genomics from the Middle East
TypeArticle
Pagination499-510
Issue Number4
Volume Number43
ESSN1098-1004
dc.accessType Open Access


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