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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Detaylı Bibliyografya
Yayımlandı:Science
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2014
Konular:
Article
Online Erişim: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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