| Literature DB >> 20534489 |
Brian Teague1, Michael S Waterman, Steven Goldstein, Konstantinos Potamousis, Shiguo Zhou, Susan Reslewic, Deepayan Sarkar, Anton Valouev, Christopher Churas, Jeffrey M Kidd, Scott Kohn, Rodney Runnheim, Casey Lamers, Dan Forrest, Michael A Newton, Evan E Eichler, Marijo Kent-First, Urvashi Surti, Miron Livny, David C Schwartz.
Abstract
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.Entities:
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Year: 2010 PMID： 20534489 PMCID： PMC2890719 DOI： 10.1073/pnas.0914638107
Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205