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

Juan L. Rodriguez-Flores, Jennifer Fuller, Neil R. Hackett, Jacqueline Salit, Joel Malek, Eman Aldous, Lotfi Chouchane, Mahmoud Zirie, Amin Jayoussi, Mai A. Mahmoud, Ronald Crystal, Jason G. Mezey

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish
Article numbere47614
JournalPLoS One
Volume7
Issue number11
Publication statusPublished - 2012

Fingerprint

Exome
Single Nucleotide Polymorphism
Health
Gene Frequency
gene frequency
human health
Population
High-Throughput Nucleotide Sequencing
Eurasia
Sample Size
Genes
sampling
genetic variation
genes

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Rodriguez-Flores, J. L., Fuller, J., Hackett, N. R., Salit, J., Malek, J., Aldous, E., ... Mezey, J. G. (2012). Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. PLoS One, 7(11), [e47614].

Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. / Rodriguez-Flores, Juan L.; Fuller, Jennifer; Hackett, Neil R.; Salit, Jacqueline; Malek, Joel; Aldous, Eman; Chouchane, Lotfi; Zirie, Mahmoud; Jayoussi, Amin; Mahmoud, Mai A.; Crystal, Ronald; Mezey, Jason G.

In: PLoS One, Vol. 7, No. 11, e47614, 2012.

Research output: Contribution to journalArticle

Rodriguez-Flores, JL, Fuller, J, Hackett, NR, Salit, J, Malek, J, Aldous, E, Chouchane, L, Zirie, M, Jayoussi, A, Mahmoud, MA, Crystal, R & Mezey, JG 2012, 'Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.', PLoS One, vol. 7, no. 11, e47614.
Rodriguez-Flores, Juan L. ; Fuller, Jennifer ; Hackett, Neil R. ; Salit, Jacqueline ; Malek, Joel ; Aldous, Eman ; Chouchane, Lotfi ; Zirie, Mahmoud ; Jayoussi, Amin ; Mahmoud, Mai A. ; Crystal, Ronald ; Mezey, Jason G. / Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. In: PLoS One. 2012 ; Vol. 7, No. 11.
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