Title: Benchmarking AlphaMissense pathogenicity predictions against APP, PSEN1, and PSEN2 variants of unknown significance
Authors: Joshua Pillai, Sophia Liu, Kijung Sung, Linda Shi, Chengbiao Wu.
Institutions:
School of Biological Sciences, University of California, San Diego, 9301 S Scholars Dr, La Jolla, CA 92093, USA. Department of Neurosciences, University of California San Diego, Medical Teaching Facility, 9500 Gilman Drive, La Jolla, CA 92093-0624, USA. Biophotonics Technology Center, Institute of Engineering in Medicine, University of California, San Diego, 9500 Gilman Dr, La Jolla, CA 92093, USA.
Publication: Biochemistry and Biophysics Reports, https://doi.org/10.1016/j.bbrep.2025.102049