Exome Sequencing of Only Seven Qataris Identifies Potentially Deleterious Variants in the Qatari Population
Exome Sequencing of Only Seven Qataris Identifies Potentially Deleterious Variants in the Qatari Population
复制标题
仅对七名卡塔尔人进行的外显子组测序就鉴定出卡塔尔人群中潜在有害的变异
作者：
Juan L. Rodriguez;Jennifer Fuller;N. Hackett;J. Salit;J. Malek;Eman K. Al;L. Chouchane;M. Zirie;Amin Jayoussi;Mai Mahmoud;R. Crystal;J. Mezey
卡塔尔人口位于非洲和欧亚大陆的阿拉伯移民十字路口，由贝都因人、波斯人和非洲人组成。通过仅对7名卡塔尔人（包括每个亚组中的个体）进行深度外显子组测序，我们确定了2，750个预测有害的非同义SNP，其中许多与人类健康相关，或者与人类健康相关的基因中。与世界其他人群相比，卡塔尔人中许多SNP的有害等位基因频率显著升高。尽管样本量小，SNP等位基因频率与较大的卡塔尔样本高度相关。总之，这些数据表明，只有少数个体的外显子组测序可以揭示遗传变异，在研究不足的人群中具有潜在的健康后果。
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.
影响因子：
7
作者：
Akey, JM;Zhang, G;Shriver, MD
通讯作者：
Shriver, MD
影响因子：
7
作者：
Pruitt, Kim D.;Harrow, Jennifer;Lipman, David
通讯作者：
Lipman, David