使用单分子测序来解决人类基因组的复杂性
Mark J P Chaisson1, John Huddleston2, Megan Y Dennis1
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
Nature
|November 11, 2014
概括
新的测序技术解决了差距,并揭示了人类基因组中的复杂变异. 这一进步提高了我们对重复性DNA和结构变异的理解,增强了人类参考基因组.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 生物信息学是一种生物信息学.
背景情况:
- 人类基因组参考组件,尽管完整,但包含160多个圣色差距.
- 人类基因组内的结构变异在最初完成十年后仍然不完全理解.
研究的目的:
- 为了识别缺失的基因组序列和遗传变异.
- 为了利用长期阅读的测序技术进行更全面的人类基因组分析.
主要方法:
- 使用单分子实时 (SMRT) DNA 测序测序和分析一个单 haploid 人类基因组 (CHM1).
- 优色结构变体的基对水平分辨率.
主要成果:
- 关闭或扩展了GRCh37参考基因组中剩余55%的间歇间隙,其中许多包含在G+C丰富区域内的长,退化的短串联重复.
- 解析了26,079种欧色结构变体,包括反转,复杂插入和长串重复,对事件<5千基的高灵敏度.
- 与人体基准相比,在复杂插入和长短并列重复的区域中确定了3:1的插入偏差.
结论:
- 长读测序技术可以解决以前无法访问的复杂重复DNA.
- 人类基因组在结构变异方面表现出更大的复杂性,特别是在更长,更复杂的重复元素方面.
- 这项研究显著提高了人类基因组结构多样性的特征.
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