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Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.

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.

SUBMITTER: Rodriguez-Flores JL 

PROVIDER: S-EPMC3490971 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.

Rodriguez-Flores Juan L JL   Fuller Jennifer J   Hackett Neil R NR   Salit Jacqueline J   Malek Joel A JA   Al-Dous Eman E   Chouchane Lotfi L   Zirie Mahmoud M   Jayoussi Amin A   Mahmoud Mai A MA   Crystal Ronald G RG   Mezey Jason G JG  

PloS one 20121106 11

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 pop  ...[more]

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