首页> The Journal of biological chemistry> VarLand: A pipeline to map the structural landscape of missense variants at the proteome scale.

VarLand: A pipeline to map the structural landscape of missense variants at the proteome scale.

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第一作者： Francisco J,Guzmán-Vega

第一单位： KAUST Center of Excellence for Smart Health (KCSH), Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia. Electronic address: francisco.guzmanvega@kaust.edu.sa.

作者： Francisco J,Guzmán-Vega ^[1] ; Kelly J,Cardona-Londoño ^[2] ; Ana C,González-Álvarez ^[2] ; Karla A,Peña-Guerra ^[2] ; Azza,Althagafi ^[3] ; Tanisha,Khan ^[2] ; Robert,Hoehndorf ^[4] ; Stefan T,Arold ^[5]

作者单位： KAUST Center of Excellence for Smart Health (KCSH), Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia. Electronic address: francisco.guzmanvega@kaust.edu.sa. ^[1] KAUST Center of Excellence for Smart Health (KCSH), Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia. ^[2] Computer Science Department, College of Computers and Information Technology, Taif University, Taif, Saudi Arabia. ^[3] KAUST Center of Excellence for Smart Health (KCSH), Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia; SDAIA-KAUST Center of Excellence in Data Science and Artificial Intelligence, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia; KAUST Center of Excellence for Generative AI, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia. ^[4] KAUST Center of Excellence for Smart Health (KCSH), Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia. Electronic address: stefan.arold@kaust.edu.sa. ^[5]

关键词 AlphaMissense ClinVar GnomAD missense variants protein structure structural bioinformatics variant annotation

医学主题词突变, 误义(Mutation, Missense);人类(Humans);蛋白质组(Proteome);数据库, 蛋白质(Databases, Protein);软件(Software)

DOI 10.1016/j.jbc.2025.111071

PMID 41419200

发布时间 2026-03-07

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