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韩国人基因组的新组合和分期

Jeong-Sun Seo^1,2,3,4,5, Arang Rhie^1,2,3, Junsoo Kim^1,4

¹Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University, Seoul 110-799, South Korea.

|October 6, 2016

概括

这项研究提供了迄今为止最连续的双倍体人类基因组组,揭示了新的结构变异,并使得个性化医疗精确的等位基因配置成为可能.

科学领域:

基因组学
人类遗传学
生物信息学

背景情况:

基因组测序技术的进步使人类基因组结构的详细调查成为可能.
了解结构变异和类型分期对于人口遗传学和个性化医学至关重要.

研究的目的:

进行韩国个体AK1的de novo组装和哈普类型分期.
识别和描述结构变异和以前难以处理的序列.
为了实现临床相关基因的高质量平分类型.

主要方法:

使用单分子实时测序,下一代映射,基于微流体的链接读数和细菌人工染色体 (BAC) 测序.
进行de novo组合,局部组合,以及跨越长读数以弥合圣色差距.
采用全基因组测序和BAC克隆测序来分阶段分类.

主要成果:

实现了高度连续的双倍基因组组合,并显著改善了连续和支架N50大小.
鉴定了18,210种结构变异,包括数千个新的断点,许多插入在亚洲人口中共享.
产生了N50大小的分相块,准确地描述了基因覆盖,主要基因相容性复合体和CYP2D6等临床相关的等位基因.

结论:

这项工作提供了迄今为止最连续的双胞胎人类基因组组.
该研究发现了许多未报告的亚洲特有的结构变异.
通过对临床相关的等位基因进行鉴定,高质量的单位基因鉴定有助于精确医学.

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