The Laboratory for Molecular and Computational Genomics, Department of Chemistry, Laboratory of Genetics and Biotechnology Center, University of Wisconsin, 425 Henry Mall, Madison, WI 53706-1580, USA.
Proc Natl Acad Sci U S A. 2010 Jun 15;107(24):10848-53. doi: 10.1073/pnas.0914638107. Epub 2010 Jun 1.
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.
它影响了基因组的很大一部分，并具有多种与健康和疾病相关的表型后果。尽管如此，由于缺乏全面发现广泛结构变异的方法，人类基因组结构的变异仍不完全被描述。我们使用光学作图技术（一种高通量、高分辨率的研究基因组结构的单分子系统）来解决这一差距。我们使用光学作图技术创建了一个完全的葡萄胎和三个淋巴母细胞衍生细胞系的全基因组限制图谱，并通过证明与现有方法具有很强的一致性来验证该方法。我们还描述了数千种新的变异体，大小从 kb 到 Mb 不等。
