The Qatar genome: a population-specific tool for precision medicine in the Middle East.
The Qatar genome: a population-specific tool for precision medicine in the Middle East.
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DOI：
10.1038/hgv.2016.16
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发表时间：
2016-01-01
影响因子：
1.5
通讯作者：
Rodriguez-Flores, Juan L
中科院分区：
文献类型：
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作者：
Fakhro, Khalid A;Staudt, Michelle R;Rodriguez-Flores, Juan L
发挥精准医学的全部潜力取决于个性化基因组解释的质量。为了促进中东和北非 (MENA) 地区的精准医疗，通过纳入 1,161 名卡塔尔人（占该人口 0.4%）的测序等位基因频率数据，构建了卡塔尔土著阿拉伯人口 (QTRG) 的特定人群基因组。在卡塔尔总共观察到 2090 万个单核苷酸多态性 (SNP) 和 310 万个插入缺失，其中每个个体基因组平均有 1.79% 的新变异。在最佳实践基因组分析工作流程中，将 GRCh37 标准参考替换为 QTRG 后，覆盖深度平均加深了 7 倍（提高了 23%），变异数量平均减少了 756,671 个，减少了 16%，这归因于 QTRG 中存在常见的卡塔尔等位基因。使用 QTRG 的好处因血统而异，在选择合适的分析参考时应考虑这一因素。
Reaching the full potential of precision medicine depends on the quality of personalized genome interpretation. In order to facilitate precision medicine in regions of the Middle East and North Africa (MENA), a population-specific genome for the indigenous Arab population of Qatar (QTRG) was constructed by incorporating allele frequency data from sequencing of 1,161 Qataris, representing 0.4% of the population. A total of 20.9 million single nucleotide polymorphisms (SNPs) and 3.1 million indels were observed in Qatar, including an average of 1.79% novel variants per individual genome. Replacement of the GRCh37 standard reference with QTRG in a best practices genome analysis workflow resulted in an average of 7* deeper coverage depth (an improvement of 23%) and 756,671 fewer variants on average, a reduction of 16% that is attributed to common Qatari alleles being present in QTRG. The benefit for using QTRG varies across ancestries, a factor that should be taken into consideration when selecting an appropriate reference for analysis.