New Lipid Research Research Reported from Mayo Clinic (Deep generative models of LDLR protein structure to predict variant pathogenicity).

Researchers at the Mayo Clinic in Rochester, Minnesota have conducted a study on the prediction of variant pathogenicity in the low density lipoprotein receptor (LDLR) protein structure. They compared the effectiveness of deep generative models, including Evolutionary model of Variant Effect (EVE), Evolutionary Scale Modeling (ESM), and AlphaFold 2 (AF2), with established methods for predicting variant pathogenicity. The study found that AF2 poorly performed in these tasks, while ESM and EVE were competitive with prior scoring methods and showed stronger correlations with experimental assays and clinical phenotypes. The research suggests that AF2 predicted LDLR structures do not accurately model variant pathogenicity. [Extracted from the article]