Article

VUStruct: a compute pipeline for high throughput and personalized structural biology

2024-08-07

Abstract excerpt

Effective diagnosis and treatment of rare genetic disorders requires the interpretation of a patient’s genetic variants of unknown significance (VUSs). Today, clinical decision-making is primarily guided by gene-phenotype association databases and DNA-based scoring methods. Our web-accessible variant analysis pipeline, VUStruct, supplements these established approaches by deeply analyzing the downstream molecular...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: edfd121a-ebab-5c0f-be40-aeefa72bf27e
DOI: 10.1101/2024.08.06.606224

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

VUStruct: a compute pipeline for high throughput and personalized structural biologyDOI 10.1101/2024.08.06.606224Read

VUStruct: A compute pipeline for high throughput and personalized structural biology.Semantic proximity Read

PIVOTAL: Prioritizing variants of uncertain significance with spatial genomic patterns in the 3D proteomeSemantic proximity Read

MAVISp: A Modular Structure-Based Framework for Protein Variant EffectsSemantic proximity Read

Systematic identification of disease-associated 3D neighborhoods in protein structuresSemantic proximity Read

DeltaMut: An Integrative Database of AlphaFold2-Derived Missense Variant StructuresSemantic proximity Read

MAVISp: A modular structure-based framework for protein variant effects.Semantic proximity Read

“The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing resultsSemantic proximity Read

A Multi-Layered Computational Structural Genomics Approach Enhances Domain-Specific Interpretation of Kleefstra Syndrome Variants in EHMT1Semantic proximity Read

ProteoCast: a web server to predict, validate, and interpret missense variant effectsSemantic proximity Read

DAVE: how to use explainable AI to interpret missense variants for genome diagnostics based on functional protein modelingSemantic proximity Read

Robust Classification of Protein Variation Using Structural Modeling and Large-Scale Data IntegrationSemantic proximity Read

Burden analysis of missense variants in 1,330 disease-associated genes on 3D provides insights into the mutation effectsSemantic proximity Read