人类基因组的主要结构变异基因的特征
Peter A Audano1, Arvis Sulovari1, Tina A Graves-Lindsay2
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Cell
|January 22, 2019
概括
这项研究产生了15个人类基因组的长读序列数据,解决了超过99,000个结构变异 (SV). 这些发现为人类遗传变异提供了全面的资源,并改善了功能多样性的解释.
科学领域:
- 基因组学
- 人类遗传学
- 生物信息学
背景情况:
- 人类结构变异对遗传多样性至关重要,但难以全面描述.
- 现有的资源往往缺乏广泛的SV的详细序列分辨率.
研究的目的:
- 使用长读序列创建人类结构变体 (SV) 的综合资源.
- 改进功能遗传变异的注释和解释.
主要方法:
- 来自15个不同的人类基因组的长读序列数据的生成和分析.
- 插入,删除,反转和可变的并列重复次数 (VNTR) 的序列分辨率和基因型.
主要成果:
- 解决了99,604个插入,删除和反转,其中所有基因组共享了2,238个.
- 发现了对人类染色体端粒区域的9倍 SV偏差.
- 发现影响编码和非编码调节位置的SV,增强功能解释.
结论:
- 生成的数据为构建正规的人类基因组提供了基础资源.
- 从这个数据集可以开发能够捕获等位基多样性的高级表示.
- 对SV的更好理解有助于更深入地了解人类遗传变异及其功能后果.
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