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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

Publication ,  Journal Article
Scott, EM; Halees, A; Itan, Y; Spencer, EG; He, Y; Azab, MA; Gabriel, SB; Belkadi, A; Boisson, B; Abel, L; Clark, AG; Alkuraya, FS ...
Published in: Nat Genet
September 2016

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 Asia, has resulted in an elevated burden of recessive disease. 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.

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Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

September 2016

Volume

48

Issue

9

Start / End Page

1071 / 1076

Location

United States

Related Subject Headings

  • White People
  • Middle East
  • Humans
  • Human Migration
  • Homozygote
  • Genome-Wide Association Study
  • Genome, Human
  • Genetics, Population
  • Genetic Variation
  • Genetic Markers
 

Citation

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Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., … Gleeson, J. G. (2016). Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet, 48(9), 1071–1076. https://doi.org/10.1038/ng.3592
Scott, Eric M., Anason Halees, Yuval Itan, Emily G. Spencer, Yupeng He, Mostafa Abdellateef Azab, Stacey B. Gabriel, et al. “Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.Nat Genet 48, no. 9 (September 2016): 1071–76. https://doi.org/10.1038/ng.3592.
Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, et al. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet. 2016 Sep;48(9):1071–6.
Scott, Eric M., et al. “Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.Nat Genet, vol. 48, no. 9, Sept. 2016, pp. 1071–76. Pubmed, doi:10.1038/ng.3592.
Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel L, Clark AG, Greater Middle East Variome Consortium, Alkuraya FS, Casanova J-L, Gleeson JG. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet. 2016 Sep;48(9):1071–1076.

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

September 2016

Volume

48

Issue

9

Start / End Page

1071 / 1076

Location

United States

Related Subject Headings

  • White People
  • Middle East
  • Humans
  • Human Migration
  • Homozygote
  • Genome-Wide Association Study
  • Genome, Human
  • Genetics, Population
  • Genetic Variation
  • Genetic Markers