SNPeffect 5.0: large-scale structural phenotyping of protein coding variants extracted from next-generation sequencing data using AlphaFold models

Abstract Background Next-generation sequencing technologies yield large numbers of genetic alterations, of which a subset are missense variants that alter an amino acid in the protein product. These variants can have a potentially destabilizing effect leading to an increased risk of misfolding and a...

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Autors principals:	Kobe Janssen, Ramon Duran-Romaña, Guy Bottu, Mainak Guharoy, Alexander Botzki, Frederic Rousseau, Joost Schymkowitz
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2023-07-01
Col·lecció:	BMC Bioinformatics
Matèries:	SNPeffect AlphaFold Protein stability Single nucleotide variants Coding missense variants Protein aggregation
Accés en línia:	https://doi.org/10.1186/s12859-023-05407-9
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