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Document type:
journal article 
Author(s):
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; Cancer Genome Atlas Research Network; Vincent, Benjamin; Eyras, Eduardo; Chen, Ken; Shmulevich, Ilya; Chen, Feng; Ding, Li; Caesar-Johnson, Samantha J; Demchok, John A;...    »
 
Title:
Systematic Analysis of Splice-Site-Creating Mutations in Cancer. 
Abstract:
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 junctions. TP53 and GATA3 have 26 and 18 SCMs, respectively, and ATRX has 5 from lower-grade...    »
 
Journal title abbreviation:
Cell Rep 
Year:
2018 
Journal volume:
23 
Journal issue:
Pages contribution:
270-281.e3 
Language:
eng 
TUM Institution:
Institut für Allgemeine Pathologie und pathologische Anatomie