Article
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Science (New York, N.Y.) - 9 Jan 2015
Xiong Hui Y, Alipanahi Babak, Lee Leo J, Bretschneider Hannes, Merico Daniele, Yuen Ryan K C, Hua Yimin, Gueroussov Serge, Najafabadi Hamed S, Hughes Timothy R, Morris Quaid, Barash Yoseph, Krainer Adrian R, Jojic Nebojsa, Scherer Stephen W, Blencowe Benjamin J, Frey Brendan J
Abstract excerpt
To facilitate precision medicine and whole-genome annotation, we developed a machine-learning technique that scores how strongly genetic variants affect RNA splicing, whose alteration contributes to many diseases. Analysis of more than 650,000 intronic and exonic variants revealed widespread patterns of mutation-driven aberrant splicing. Intronic disease mutations that are more than 30 nucleotides from any splice...
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