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首页> 外文期刊>Scientific reports. >KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses
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KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses

机译：KoVariome：韩国国家标准参考Variome数据库，具有完整的SNV，indel，CNV和SV分析的全基因组数据库

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High-coverage whole-genome sequencing data of a single ethnicity can provide a useful catalogue of population-specific genetic variations, and provides a critical resource that can be used to more accurately identify pathogenic genetic variants. We report a comprehensive analysis of the Korean population, and present the Korean National Standard Reference Variome (KoVariome). As a part of the Korean Personal Genome Project (KPGP), we constructed the KoVariome database using 5.5 terabases of whole genome sequence data from 50 healthy Korean individuals in order to characterize the benign ethnicity-relevant genetic variation present in the Korean population. In total, KoVariome includes 12.7M single-nucleotide variants (SNVs), 1.7M short insertions and deletions (indels), 4K structural variations (SVs), and 3.6K copy number variations (CNVs). Among them, 2.4M (19%) SNVs and 0.4M (24%) indels were identified as novel. We also discovered selective enrichment of 3.8M SNVs and 0.5M indels in Korean individuals, which were used to filter out 1,271 coding-SNVs not originally removed from the 1,000 Genomes Project when prioritizing disease-causing variants. KoVariome health records were used to identify novel disease-causing variants in the Korean population, demonstrating the value of high-quality ethnic variation databases for the accurate interpretation of individual genomes and the precise characterization of genetic variations.
机译：单一种族的高覆盖全基因组测序数据可以提供特定人群遗传变异的有用目录，并提供可以用来更准确地识别致病性遗传变异的重要资源。我们报告了对韩国人口的全面分析，并提出了韩国国家标准参考标准Variome（KoVariome）。作为韩国个人基因组计划（KPGP）的一部分，我们使用来自50个健康朝鲜族个体的5.5个全基因组序列数据构建了TeraBase，构建了KoVariome数据库，以表征朝鲜族人群中与良性种族相关的遗传变异。总的来说，KoVariome包括1270万个单核苷酸变异（SNV），170万个短插入和缺失（indels），4K结构变异（SV）和3.6K拷贝数变异（CNV）。其中，有240万个（19％）SNV和40万个（24％）插入缺失被认为是新颖的。我们还发现在韩国个体中选择性富集了380万个SNV和0.5M插入/缺失，当优先考虑致病变体时，它们被用来过滤掉1,271个最初未从1,000个基因组计划中删除的编码SNV。 KoVariome健康记录被用来识别朝鲜族人群中新的致病变异，证明了高质量的种族变异数据库对于准确解释单个基因组和精确描述遗传变异的价值。

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