Article
MAVISp: A modular structure-based framework for protein variant effects.
Protein science : a publication of the Protein Society - 1 May 2026
Arnaudi Matteo, Utichi Mattia, Degn Kristine, Tiberti Matteo, Beltrame Ludovica, Krzesińska Karolina, Besora Pablo Sánchez-Izquierdo, Kiachaki Eleni, Scrima Simone, Bauer Laura, Meldgård Katrine, Melidi Anna, Favaro Lorenzo, Oswal Anu, Tedeschi Guglielmo, Dorčaková Terézia, Estad Alberte Heering, Breitenstein Joachim, Safer Jordan, Saridaki Paraskevi, Sora Valentina, Maselli Francesca, Becker Philipp, Vinhas Jérémy, Pettenella Alberto, Lambrughi Matteo, Cava Claudia, Rohlin Anna, Nilbert Mef, Iqbal Sumaiya, Sackett Peter Wad, Fas Burcu Aykac, Papaleo Elena
Abstract excerpt
The role of genomic variants in disease has expanded significantly with the advent of advanced sequencing techniques. The rapid increase in identified genomic variants has led to many variants being classified as Variants of Uncertain Significance or as having conflicting evidence, posing challenges for their interpretation and characterization. Additionally, current methods for predicting pathogenic variants...
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