Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 107, Issue 24, Pages 10848-10853Publisher
NATL ACAD SCIENCES
DOI: 10.1073/pnas.0914638107
Keywords
structural variation; copy number variation; optical mapping; single-molecule genomics; genome assembly
Categories
Funding
- National Institutes of Health [R01 HG000225, R33 CA111933]
- National Research Service Award [T32 GM008349, T32 GM07215]
- National Library of Medicine Training [5T15 LM007359]
- Direct For Mathematical & Physical Scien
- Division Of Materials Research [832760] Funding Source: National Science Foundation
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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.
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