Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 23139751.
- Also identified by DOI 10.1371/journal.pone.0047614 and PMC identifier 3490971.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
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.
Medical subject headings
- Exome
- Genetics, Population
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA