Vietnamese Genetic Variation Database

Building a Vietnamese human genetic variation database is a must for properly interpreting Vietnamese genetic variants. To this end, we sequenced 105 whole genomes and 200 whole exomes of 305 unrelated Kinh Vietnamese (KHV) people. We also included 101 other previously published KHV genomes to build a Vietnamese human genetic variation database of 406 KHV people. The KHV database contains 24.81 million variants (22.47 million single nucleotide polymorphisms (SNPs) and 2.34 million indels) of which 0.71 million variants are novel. It includes more than 99.3% of variants with a frequency of >1% in the KHV population. Noticeably, the KHV database revealed 107 variants reported in the human genome mutation database as pathological mutations with a frequency above 1% in the KHV population. The KHV database (available at https://genomes.vn) would be beneficial for genetic studies and medical applications not only for the Vietnamese population but also for other closely related populations.

构建越南人群遗传变异数据库，是精准解读越南人群遗传变异的必要前提。为此，我们对305名无亲缘关系的越南京族（Kinh Vietnamese, KHV）个体进行测序，共获得105份全基因组样本与200份全外显子组样本；此外还纳入了此前已发表的101份京族全基因组数据，最终建成包含406名京族个体的越南人群遗传变异数据库。该数据库共涵盖2481万个遗传变异位点，其中包括2247万个单核苷酸多态性（single nucleotide polymorphisms, SNPs）与234万个插入缺失变异（indels），其中71万个变异为首次报道的新变异；该数据库覆盖了京族人群中频率大于1%的变异的99.3%以上。值得注意的是，该数据库中发现了107个在人类基因组突变数据库中被标注为病理性突变的位点，且这些位点在京族人群中的频率高于1%。该京族数据库（访问地址：https://genomes.vn）不仅可为越南人群的遗传学研究与医学应用提供助力，也可惠及其他亲缘关系较近的人群。

搜集汇总

背景与挑战

背景概述

该数据库整合了406名Kinh越南人的全基因组和外显子组测序数据，共包含2481万个遗传变异，其中71万为新发现变异，覆盖了该人群中超过99.3%的频率高于1%的变异。值得注意的是，数据库中包含了107个已知病理突变且在该人群中出现频率高于1%的变异。该数据库（可通过https://genomes.vn访问）不仅有助于越南人群的遗传研究和医学应用，也对相近人群具有重要价值。