To maximize the potential of genomics in medicine, it is essential to establish databases of genomic variants for ethno-geographic groups that can be used for filtering and prioritizing candidate pathogenic variants. Populations with non-European ancestry are poorly represented among current genomic variant databases. Here, we report the first high-density survey of genomic variants for the Thai population, the Thai Reference Exome (T-REx) variant database. T-REx comprises exome sequencing data of 1092 unrelated Thai individuals. The targeted exome regions common among four capture platforms cover 30.04 Mbp on autosomes and chromosome X. 345 681 short variants (18.27% of which are novel) and 34 907 copy number variations were found. Principal component analysis on 38 469 single nucleotide variants present worldwide showed that the Thai population is most genetically similar to East and Southeast Asian populations. Moreover, unsupervised clustering revealed six Thai subpopulations consistent with the evidence of gene flow from neighboring populations. The prevalence of common pathogenic variants in T-REx was investigated in detail, which revealed subpopulation-specific patterns, in particular variants associated with erythrocyte disorders such as the HbE variant in HBB and the Viangchan variant in G6PD. T-REx serves as a pivotal addition to the current databases for genomic medicine.

中文翻译：

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泰国参考外显子组 (T-REx) 变体数据库

为了最大限度地发挥基因组学在医学中的潜力，必须为民族地理群体建立基因组变异数据库，这些数据库可用于过滤和优先考虑候选致病变异。在当前的基因组变异数据库中，具有非欧洲血统的人群的代表性很差。在这里，我们报告了针对泰国人群的第一次高密度基因组变异调查，即泰国参考外显子组 (T-REx) 变异数据库。T-REx 包含 1092 名无关泰国人的外显子组测序数据。四个捕获平台中常见的靶向外显子组区域覆盖了常染色体和 X 染色体上的 30.04 Mbp。发现了 345 681 个短变体（其中 18.27% 是新的）和 34 907 个拷贝数变体。对全球存在的 38 469 个单核苷酸变体进行的主成分分析表明，泰国人群在遗传上与东亚和东南亚人群最为相似。此外，无监督聚类揭示了六个泰国亚群，与来自邻近人群的基因流动证据一致。详细调查了 T-REx 中常见致病性变异的流行情况，揭示了亚群特异性模式，特别是与红细胞疾病相关的变异，如 HbE 变异G6PD中的HBB和 Viangchan 变体。T-REx 是当前基因组医学数据库的关键补充。