BioinformaticsbioRxivPreprint
protPheMut: An Interpretable Machine Learning Tool for Classification of Cancer and Neurodevelopmental Disorders in Human Missense Variants
Jingran Wang, Miao Yang, Chang Fu Zong…·Guang Hu
protPheMut predicts cancer and neurodevelopmental disorder phenotypes from missense variants using interpretable machine learning, achieving high accuracy in PI3K and PTEN mutation analysis.
DOI 10.1101/2025.01.06.631365