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المؤلفMbarek, Hamdi
المؤلفDevadoss Gandhi, Geethanjali
المؤلفSelvaraj, Senthil
المؤلفAl-Muftah, Wadha
المؤلفBadji, Radja
المؤلفAl-Sarraj, Yasser
المؤلفSaad, Chadi
المؤلفDarwish, Dima
المؤلفAlvi, Muhammad
المؤلفFadl, Tasnim
المؤلفYasin, Heba
المؤلفAlkuwari, Fatima
المؤلفRazali, Rozaimi
المؤلفAamer, Waleed
المؤلفAbbaszadeh, Fatemeh
المؤلفAhmed, Ikhlak
المؤلفMokrab, Younes
المؤلفSuhre, Karsten
المؤلفAlbagha, Omar
المؤلفFakhro, Khalid
المؤلفBadii, Ramin
المؤلفIsmail, Said I.
المؤلفAlthani, Asma
تاريخ الإتاحة2023-03-27T07:35:56Z
تاريخ النشر2022-04-01
اسم المنشورHuman Mutation
المعرّفhttp://dx.doi.org/10.1002/humu.24336
الاقتباسMbarek, 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
الرقم المعياري الدولي للكتاب10597794
معرّف المصادر الموحدhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85128001196&origin=inward
معرّف المصادر الموحدhttp://hdl.handle.net/10576/41331
الملخصDespite 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.
راعي المشروعThe 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.
اللغةen
الناشرWiley
الموضوعArab ancestry
diversity
genetics
large-scale sequencing
Middle East
العنوانQatar genome: Insights on genomics from the Middle East
النوعArticle
الصفحات499-510
رقم العدد4
رقم المجلد43
ESSN1098-1004
dc.accessType Open Access


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