AlphaGenome informed machine learning for pathogenicity prediction of germline mutations
Pankaj Kumar, Srishti Singh, Sandip Garai, Madhu Ramesh, Rangasai Chandra Goli, K. C. Nikhil, Tanmaya Kumar Sahu, Soumen Naskar, Vijai Pal Bhadana, Madhusudan Reddy Nandineni, K K Kanaka
AGVarPred is a gradient-boosted classifier that improves pathogenicity prediction of germline variants by integrating AlphaGenome features, outperforming existing models across SNVs and indels.
bioRxiv · Oct 25, 2026 · PreprintBioinformatics