AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma

Objective: Uveal melanoma (UM) poses significant diagnostic and prognostic challenges due to its variable genetic landscape. We explore the use of a novel deep learning tool to assess the functional impact of genetic mutations in UM. Design: A cross-sectional bioinformatics exploratory data analysis...

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Bibliographic Details

Published in:	Ophthalmology Science
Main Authors:	David J. Taylor Gonzalez, MD, Mak B. Djulbegovic, MD, MSc, Meghan Sharma, MD, MPH, Michael Antonietti, BS, Colin K. Kim, BS, Vladimir N. Uversky, PhD, DSc, Carol L. Karp, MD, Carol L. Shields, MD, Matthew W. Wilson, MD
Format:	Article
Language:	English
Published:	Elsevier 2025-05-01
Subjects:	AlphaFold AlphaMissense ClinVar COSMIC Missense mutations Uveal melanoma
Online Access:	http://www.sciencedirect.com/science/article/pii/S2666914524002094