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Article

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

BMC bioinformatics - 18 Jul 2023

Janssen Kobe, Duran-Romaña Ramon, Bottu Guy, Guharoy Mainak, Botzki Alexander, Rousseau Frederic, Schymkowitz Joost

Abstract excerpt

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 aggregation. Multiple software tools exist to predict the effect of single-nucleotide variants on proteins, however, a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37464277
DOI: 10.1186/s12859-023-05407-9
PMCID: PMC10355034

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