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

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Updated: Jul 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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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
Abstract

Keywords:
AlphaFoldCoding missense variantsProtein aggregationProtein stabilitySNPeffectSingle nucleotide variants

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