A Semantic + Neuronal Approach to Predict Pathogenic Variants in DNA Sequences
Jésus Antonio Motta, Carolina Fernandez, Maria del Mar Motta
The paper presents a machine learning model that predicts pathogenic DNA variants using a semantic approach combined with CRF and BiLSTM, achieving state-of-the-art performance.
bioRxiv · Aug 20, 2026 · PreprintBioinformatics