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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.
Scott, Eric M; Halees, Anason; Itan, Yuval; Spencer, Emily G; He, Yupeng; Azab, Mostafa Abdellateef; Gabriel, Stacey B; Belkadi, Aziz; Boisson, Bertrand; Abel, Laurent; Clark, Andrew G; Alkuraya, Fowzan S; Casanova, Jean-Laurent; Gleeson, Joseph G.
Afiliação
  • Scott EM; Howard Hughes Medical Institute, Rockefeller University, New York, New York, USA.
  • Halees A; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.
  • Itan Y; Laboratory for Pediatric Brain Disease, Rockefeller University, New York, New York, USA.
  • Spencer EG; Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • He Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, New York, USA.
  • Azab MA; Howard Hughes Medical Institute, Rockefeller University, New York, New York, USA.
  • Gabriel SB; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.
  • Belkadi A; Laboratory for Pediatric Brain Disease, Rockefeller University, New York, New York, USA.
  • Boisson B; Howard Hughes Medical Institute, Rockefeller University, New York, New York, USA.
  • Abel L; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.
  • Clark AG; Laboratory for Pediatric Brain Disease, Rockefeller University, New York, New York, USA.
  • Alkuraya FS; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.
  • Casanova JL; Laboratory for Pediatric Brain Disease, Rockefeller University, New York, New York, USA.
  • Gleeson JG; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Nat Genet ; 48(9): 1071-6, 2016 09.
Article em En | MEDLINE | ID: mdl-27428751
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 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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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Marcadores Genéticos / Doença / Povo Asiático / População Branca / Genética Populacional Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Marcadores Genéticos / Doença / Povo Asiático / População Branca / Genética Populacional Idioma: En Ano de publicação: 2016 Tipo de documento: Article