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Publication Type : Journal Article
Thematic Areas : Medical Sciences
Publisher : Nat Genet.
Source : Nat Genet. , Volume 48, Issue 9, p.1071-6 (2016)
Campus : Kochi
School : School of Medicine
Department : Paediatrics
Year : 2016
Abstract : The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1,2,3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized 'genetic purging'. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics.
Cite this Research Publication : S. EM, A, H., Y, I., and S, N., “Characterization of Greater Middle Eastern Genetic Variation for Enhanced Disease Gene Discovery”, Nat Genet. , vol. 48, no. 9, pp. 1071-6, 2016.