Article

Identification of (ultra-)rare functional promoter mutations in cancer using sequence-based deep learning models

2025-05-06

Abstract excerpt

The identification of non-coding somatic cancer-driver mutations remains challenging due to difficulties in interpreting rare and ultra-rare variants. We hypothesized that sequence-based models can be used to systematically prioritize such mutations for their functional relevance. Here we present a computational framework that leverages sequence-based models to assess the functional impact of (ultra-)rare somatic...

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Literature Corpus work: e60a84da-2ae0-5261-8bf5-93d662a3fb16
DOI: 10.1101/2025.05.06.25327057

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