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SNPeffect 5.0: large-scale structural phenotyping of protein coding variants extracted from next-generation

Kobe Janssen1,2, Ramon Duran-Romaña1,2, Guy Bottu3

  • 1Switch Laboratory, VIB-KU Leuven Center for Brain and Disease Research, Herestraat 49, 3000, Leuven, Belgium.

BMC Bioinformatics
|July 18, 2023
PubMed
Summary

This study introduces an automated bioinformatics pipeline to analyze the impact of missense genetic variants on protein stability and aggregation. The tool integrates multiple predictors and structural databases for comprehensive analysis from next-generation sequencing data.

Keywords:
AlphaFoldCoding missense variantsProtein aggregationProtein stabilitySNPeffectSingle nucleotide variants

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