Article

Benchmarking DNA Sequence Models for Causal Regulatory Variant Prediction in Human Genetics

2025-02-12

Abstract excerpt

Machine learning holds immense promise in biology, particularly for the challenging task of identifying causal variants for Mendelian and complex traits. Two primary approaches have emerged for this task: supervised sequence-to-function models trained on functional genomics experimental data and self-supervised DNA language models that learn evolutionary constraints on sequences. However, the field currently lacks...

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Literature Corpus work: 59010871-eff9-5f14-8d77-e0e7358f8ab4
DOI: 10.1101/2025.02.11.637758

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