Article

MAVISp: A Modular Structure-Based Framework for Protein Variant Effects

2022-10-24

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 ofte...

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Literature Corpus work: c344bb44-2bec-5d2b-a30c-97ed972e9f7c
DOI: 10.1101/2022.10.22.513328

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