长读测序和自然历史收集样本和具有挑战性的标本的基因组组装
Bernhard Bein1,2,3, Ioannis Chrysostomakis4, Larissa S Arantes5,6
1LOEWE Centre for Translational Biodiversity Genomics, Senckenberganlage 25, Frankfurt, 60325, Germany.
Genome biology
|February 10, 2025
概括
博物馆藏品为基因组测序提供了大量尚未开发的资源. 新的协议使高质量的基因组组件从具有挑战性的样本,包括微小的生物,推进真核生物参考基因组的努力.
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:
- 博物馆收藏包含数以百万计的保存生物样本.
- 这些样本在很大程度上未被用于现代基因组技术,如长读测序.
- 现有的协议经常与保存样本的DNA质量和数量扎.
研究的目的:
- 为博物馆样本开发和验证新的DNA提取和测序协议.
- 从具有挑战性的标本中实现高质量,连续的基因组组合.
- 扩大从历史和多样化的收藏中获取基因组资源的可访问性.
主要方法:
- 在乙醇保存样本上使用无放大协议进行长读测序.
- 开发了一种基于放大功能的修改协议,使用替代的聚合酶来缓解PCR偏差.
- 将这些协议应用于各种难以测序的生物体,包括毫米尺寸的无脊椎动物.
主要成果:
- 从从博物馆样本中提取的千克基数大小的DNA中实现了连续的基因组组件.
- 成功组装了3.1Gb载人的基因组,克服了以前的尺寸限制.
- 改善了对具有挑战性的软体动物和节足动物的基因组组装质量.
结论:
- 博物馆藏品是大规模基因组测序的宝贵,未得到充分利用的资源.
- 开发的协议有助于从具有挑战性和小规模的生物体中进行基因组组装.
- 这项工作显著推进了全面的真核生物参考基因组的生成.
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