An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes
An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes
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DOI：
10.1038/ncomms13637
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发表时间：
2016-11-24
影响因子：
16.6
通讯作者：
Bhak, Jong
中科院分区：
文献类型：
--
作者：
Cho, Yun Sung;Kim, Hyunho;Bhak, Jong
人类基因组通常与通用参考进行比较。然而，这种策略可能会错过群体特异性和个人基因组变异，这可以使用种族相关或个人参考更有效地检测。在这里，我们报告了一个混合装配的韩国参考基因组（KOREF）构建个人和种族的参考相结合的测序和映射方法。我们还建立了一致的变异组参考，提供了来自韩国个人基因组计划的40个其他种族同质基因组的数百万个变异的信息。我们发现，种族相关的共识参考可以有利于有效的变异检测。人类组装的系统比较显示了组装质量的重要性，这表明有必要采用新技术来全面绘制种族和个人基因组结构变异。在大规模人口基因组计划的时代，利用种族特异性基因组组装以及人类参考基因组将加速绘制所有人类基因组多样性。
Human genomes are routinely compared against a universal reference. However, this strategy could miss population-specific and personal genomic variations, which may be detected more efficiently using an ethnically relevant or personal reference. Here we report a hybrid assembly of a Korean reference genome (KOREF) for constructing personal and ethnic references by combining sequencing and mapping methods. We also build its consensus variome reference, providing information on millions of variants from 40 additional ethnically homogeneous genomes from the Korean Personal Genome Project. We find that the ethnically relevant consensus reference can be beneficial for efficient variant detection. Systematic comparison of human assemblies shows the importance of assembly quality, suggesting the necessity of new technologies to comprehensively map ethnic and personal genomic structure variations. In the era of large-scale population genome projects, the leveraging of ethnicity-specific genome assemblies as well as the human reference genome will accelerate mapping all human genome diversity.