人口结构,分层和人类结构变化的内向
Mohamed A Almarri1, Anders Bergström2, Javier Prado-Martinez1
1Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
Cell
|June 13, 2020
概括
结构变异是人类遗传多样性的关键, 这项对911个不同的基因组的分析揭示了126,018个新变异,强调了更广泛的基因组参考的需要.
科学领域:
- 基因组学
- 人类的进化
- 人口遗传学
背景情况:
- 结构变异对遗传多样性,进化和健康有重大影响.
- 尽管SV很重要,但与其他遗传变异相比,其理解程度较低.
- 对人类遗传变异的全面理解需要研究多样化的群体.
研究的目的:
- 在多样化的人口数据集中对结构变异进行全面分析.
- 识别新的结构变异,了解它们在全球人口中的分布和频率.
- 评估当前人类基因组的局限性以及对多样化基因组数据的需求.
主要方法:
- 来自人类基因组多样性小组 (911个样本,54个种群) 的高覆盖度测序数据的分析.
- 结构变异的识别和描述,包括重复和插入.
- 使用链接阅读测序对25个基因组进行新组装,以发现断点解决的插入.
主要成果:
- 确定了126018个结构变体,其中78%与以前的全球项目相比是新鲜的.
- 发现了群体特异性变体, 包括失控的重复和古老的原始人.
- 在GRCh38参考基因组中缺少1643个独特插入 (1.9 Mb总序列).
结论:
- 这项研究强调了人类基因组中未被发现的结构变异的广度.
- 特定种群的变异揭示了独特的进化历史和适应性.
- 单个参考基因组是不够的;多样化,高质量的基因组对于完全了解人类遗传变异至关重要.
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