Article

Benchmarking the coding strategies of non-coding mutations on sequence-based downstream tasks with machine learning

2025-01-02

Abstract excerpt

Non-coding single nucleotide polymorphisms (SNPs) are critical drivers of gene regulation and disease susceptibility, yet predicting their functional impact remains a challenging task. A variety of methods exist for encoding non-coding SNPs, such as direct base encoding or using pre-trained models to obtain embeddings. However, there is a lack of comprehensive evaluation and guidance on the choice of encoding stra...

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Literature Corpus work: 931d3838-ff31-5a3a-b073-51c355617066
DOI: 10.1101/2025.01.01.631025

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