Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Shantanu Jain, Marena I. Trinidad, Thanh Nguyen, Kaiya Jones, Santiago Diaz Neto, Fang Ge, Ailin Glagovsky, Cameron Jones, Giankaleb Moran, Boqi Wang, Kobra Rahimi, Sümeyra Zeynep Çalıcı, Luis R. Cedillo, Silvia Berardelli, Buse Özden, , Wyatt Travis Clark
The paper evaluates variant effect predictions for ARSA gene variants, finding that a bootcamp-trained model outperformed others and that deep learning slightly improved performance over simpler methods.
Human Genetics · Mar 1, 2025Peer-reviewedGenetics