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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Veröffentlicht in:	Journal of lipid research Jg. 64; H. 12; S. 100455
Hauptverfasser:	James, Jose K., Norland, Kristjan, Johar, Angad S., Kullo, Iftikhar J.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States Elsevier Inc 01.12.2023 American Society for Biochemistry and Molecular Biology Elsevier
Schlagworte:	Atherosclerosis Cardiovascular Diseases - physiopathology Dyslipidemias Genetic Variation Genomics Humans Lipoproteins/Receptors Models, Molecular Phenotype Physical Biochemistry Protein Structure, Tertiary Proteomics Receptors, LDL - chemistry Receptors, LDL - genetics Virulence - genetics FH Dyslipidemias Genomics GPU AUC Atherosclerosis MSA MI LDLR ESM MAVE ACMG OR AMP EGF Lipoproteins/Receptors GMM AI HMM AF2 UKB VCEP EVE VUS pLDDT LA Proteomics Physical Biochemistry VAE atherosclerosis genomics lipoproteins/receptors dyslipidemias proteomics physical biochemistry
ISSN:	0022-2275, 1539-7262, 1539-7262
Online-Zugang:	Volltext
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