Article
High-resolution human genome structure by single-molecule analysis.
Proceedings of the National Academy of Sciences of the United States of America - 15 Jun 2010
Teague Brian, Waterman Michael S, Goldstein Steven, Potamousis Konstantinos, Zhou Shiguo, Reslewic Susan, Sarkar Deepayan, Valouev Anton, Churas Christopher, Kidd Jeffrey M, Kohn Scott, Runnheim Rodney, Lamers Casey, Forrest Dan, Newton Michael A, Eichler Evan E, Kent-First Marijo, Surti Urvashi, Livny Miron, Schwartz David C
Abstract excerpt
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...
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