The human splicing code reveals new insights into the genetic determinants of disease

INTRODUCTION: Advancing whole-genome precision medicine requires understanding how gene expression is altered by genetic variants, especially those that are outside of protein-coding regions. We developed a computational technique that scores how strongly genetic variants alter RNA splicing, a criti...

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Publicado no:Science
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4362528/
https://ncbi.nlm.nih.gov/pubmed/25525159
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1254806
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