High-resolution human genome structure by single-molecule analysis
| Autor: | Konstantinos Potamousis, Casey Lamers, Michael S. Waterman, Deepayan Sarkar, Christopher Churas, Steven A. Goldstein, Marijo Kent-First, Anton Valouev, Brian Teague, Susan Reslewic, Jeffrey M. Kidd, Michael A. Newton, David C. Schwartz, Miron Livny, Dan Forrest, Urvashi Surti, Rodney Runnheim, Scott Kohn, Evan E. Eichler, Shiguo Zhou |
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| Rok vydání: | 2010 |
| Předmět: |
Sequence assembly
Genome-wide association study Computational biology Biology Genome Cell Line Structural variation Pregnancy Cell Line Tumor Genetic variation Humans Lymphocytes Optical Restriction Mapping Copy-number variation Genetics Multidisciplinary Genome Human Genetic Variation Hydatidiform Mole Biological Sciences Uterine Neoplasms Female Human genome Algorithms Genome-Wide Association Study |
| Zdroj: | Proceedings of the National Academy of Sciences. 107:10848-10853 |
| ISSN: | 1091-6490 0027-8424 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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