Deep generative models of LDLR protein structure to predict variant pathogenicity

The complex structure and function of low density lipoprotein receptor (LDLR) makes classification of protein-coding missense variants challenging. Deep generative models, including Evolutionary model of Variant Effect (EVE), Evolutionary Scale Modeling (ESM), and AlphaFold 2 (AF2), have enabled sig...

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Bibliographic Details
Main Authors: Jose K. James, Kristjan Norland, Angad S. Johar, Iftikhar J. Kullo
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:Journal of Lipid Research
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227523001281