Article
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.
Nature genetics - 1 Sept 2016
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
Abstract excerpt
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...
Topics
- Asian People
- Cohort Studies
- Consanguinity
- Disease
- Exome
- Genes, Recessive
- Genetic Markers
- Genetic Variation
- Genetics, Population
- Genome, Human