title: 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.
authors.affiliation: Department of Genetic Medicine, Weill Cornell Medical College, New York, New York, USA.
authors.forename: Juan L
authors.initials: JL
authors.lastname: Rodriguez-Flores
authors.forename: Jennifer
authors.initials: J
authors.lastname: Fuller
authors.forename: Neil R
authors.initials: NR
authors.lastname: Hackett
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Salit
authors.forename: Joel A
authors.initials: JA
authors.lastname: Malek
authors.forename: Eman
authors.initials: E
authors.lastname: Al-Dous
authors.forename: Lotfi
authors.initials: L
authors.lastname: Chouchane
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Zirie
authors.forename: Amin
authors.initials: A
authors.lastname: Jayoussi
authors.forename: Mai A
authors.initials: MA
authors.lastname: Mahmoud
authors.forename: Ronald G
authors.initials: RG
authors.lastname: Crystal
authors.forename: Jason G
authors.initials: JG
authors.lastname: Mezey
mesh_terms: D002877:Chromosomes, Human / Q000235:genetics; D059472:Exome / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D005828:Genetics, Population; D015894:Genome, Human / Q000235:genetics; D006262:Health; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D025341:Principal Component Analysis; D011780:Qatar; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA / Q000379:methods*