A comprehensive characterization of cis-acting splicing-associated variants in human cancer

Abstract excerpt

Although many driver mutations are thought to promote carcinogenesis via abnormal splicing, the landscape of these splicing-associated variants (SAVs) remains unknown due to the complexity of splicing abnormalities. Here we developed a statistical framework to identify SAVs disrupting or newly creating splice site motifs and applied it to sequencing data from 8,976 samples across 31 cancer types. We constructed a...

Topics

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• Alternative Splicing
• Gene Expression Regulation, Neoplastic
• Gene Regulatory Networks
• Genetic Heterogeneity
• Mutation
• Neoplasms
• RNA Splicing
• RNA Splicing Factors

Identifiers and source

Literature Corpus work

4842b9cc-de27-5546-879d-581ec80b20e3

DOI

10.1101/162560