Article
Systematic Analysis of Splice-Site-Creating Mutations in Cancer.
Cell reports - 3 Apr 2018
Jayasinghe Reyka G, Cao Song, Gao Qingsong, Wendl Michael C, Vo Nam Sy, Reynolds Sheila M, Zhao Yanyan, Climente-González Héctor, Chai Shengjie, Wang Fang, Varghese Rajees, Huang Mo, Liang Wen-Wei, Wyczalkowski Matthew A, Sengupta Sohini, Li Zhi, Payne Samuel H, Fenyö David, Miner Jeffrey H, Walter Matthew J, Vincent Benjamin, Eyras Eduardo, Chen Ken, Shmulevich Ilya, Chen Feng, Ding Li
Abstract excerpt
For the past decade, cancer genomic studies have focused on mutations leading to splice-site disruption, overlooking those having splice-creating potential. Here, we applied a bioinformatic tool, MiSplice, for the large-scale discovery of splice-site-creating mutations (SCMs) across 8,656 TCGA tumors. We report 1,964 originally mis-annotated mutations having clear evidence of creating alternative splice...
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