High-resolution human genome structure by single-molecule analysis
High-resolution human genome structure by single-molecule analysis
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DOI：
10.1073/pnas.0914638107
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发表时间：
2010-06-15
影响因子：
11.1
通讯作者：
Schwartz, David C.
中科院分区：
文献类型：
--
作者：
Teague, Brian;Waterman, Michael S.;Schwartz, David C.
基因组结构的变异是人类遗传多态性的重要来源：它影响很大一部分基因组，并具有与健康和疾病相关的各种表型后果。尽管如此，由于缺乏以全球、全面的方式发现大范围结构变异的方法，人类基因组结构变异尚未完全表征。我们利用光学图谱解决了这一问题，光学图谱是一种用于研究基因组结构的高通量、高分辨率单分子系统。我们使用光学Mapping技术创建了一个完整的葡萄胎和三个淋巴母细胞衍生细胞系的全基因组限制性图谱，并通过证明与现有方法的强一致性来验证该方法。我们还描述了数千种大小从kb到Mb不等的新变体。
Variation in genome structure is an important source of human genetic polymorphism: It affects a large proportion of the genome and has a variety of phenotypic consequences relevant to health and disease. In spite of this, human genome structure variation is incompletely characterized due to a lack of approaches for discovering a broad range of structural variants in a global, comprehensive fashion. We addressed this gap with Optical Mapping, a high-throughput, high-resolution single-molecule system for studying genome structure. We used Optical Mapping to create genome-wide restriction maps of a complete hydatidiform mole and three lymphoblast-derived cell lines, and we validated the approach by demonstrating a strong concordance with existing methods. We also describe thousands of new variants with sizes ranging from kb to Mb.