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

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 aggregati...

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Detalles Bibliográficos
Autores principales: Janssen, Kobe, Duran-Romaña, Ramon, Bottu, Guy, Guharoy, Mainak, Botzki, Alexander, Rousseau, Frederic, Schymkowitz, Joost
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10355034/
https://www.ncbi.nlm.nih.gov/pubmed/37464277
http://dx.doi.org/10.1186/s12859-023-05407-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10355034/
https://www.ncbi.nlm.nih.gov/pubmed/37464277
http://dx.doi.org/10.1186/s12859-023-05407-9

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