Article

Discovering cryptic splice mutations in cancers via a deep neural network framework

2022-10-18

Abstract excerpt

<h4>ABSTRACT</h4> Somatic mutations can disrupt splicing regulatory elements and have dramatic effects on cancer genes, yet the functional consequences of mutations located in extended splice regions is difficult to predict. Here, we use a deep neural network (SpliceAI) to characterize the landscape of splice-altering mutations in cancer. In our in-house liver cancer series, SpliceAI uncovers many cryptic splice...

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Literature Corpus work: d3f24f0f-85cd-50da-897d-eda5470c53f4
DOI: 10.1101/2022.10.14.512264

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