Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. Academic Article uri icon


MeSH Major

  • Exome
  • Genetics, Population
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA


  • The Qatari population, located at the Arabian migration crossroads of African and Eurasia, is comprised of Bedouin, Persian and African genetic subgroups. By deep exome sequencing of only 7 Qataris, including individuals in each subgroup, we identified 2,750 nonsynonymous SNPs predicted to be deleterious, many of which are linked to human health, or are in genes linked to human health. Many of these SNPs were at significantly elevated deleterious allele frequency in Qataris compared to other populations worldwide. Despite the small sample size, SNP allele frequency was highly correlated with a larger Qatari sample. Together, the data demonstrate that exome sequencing of only a small number of individuals can reveal genetic variations with potential health consequences in understudied populations.

publication date

  • December 2012



  • Academic Article



  • eng

PubMed Central ID

  • PMC3490971

PubMed ID

  • 23139751

Additional Document Info

start page

  • e47614


  • 7


  • 11