Article

Machine learning of three-dimensional protein structures to predict the functional impacts of genome variation

2023-10-28

Abstract excerpt

Research in the human genome sciences generates a substantial amount of genetic data for hundreds of thousands of individuals, which concomitantly increases the number of variants with unknown significance (VUS). Bioinformatic analyses can successfully reveal rare variants and variants with clear associations to disease-related phenotypes. These studies have made a significant impact on how clinical genetic screen...

Topics

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

Identifiers and source

Literature Corpus work: e79b7433-b8d0-51b1-9c55-f610e194fe63
DOI: 10.1101/2023.10.27.564415

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Machine learning of three-dimensional protein structures to predict the functional impacts of genome variationDOI 10.1101/2023.10.27.564415Read

Machine Learning of Three-Dimensional Protein Structures to Predict the Functional Impacts of Genome Variation.Semantic proximity Read

A structure-based tool to interpret the significance of kinase mutations in clinical next generation sequencing in cancerSemantic proximity Read

Characterizing and explaining impact of disease-associated mutations in proteins without known structures or structural homologuesSemantic proximity Read

Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs.Semantic proximity Read

Computed cancer interactome explains the effects of somatic mutations in cancers.Semantic proximity Read

Computed cancer interactome explains the effects of somatic mutations in cancersSemantic proximity Read

Systematic discovery of protein interaction interfaces using AlphaFold and experimental validationSemantic proximity Read

Structurally-informed human interactome reveals proteome-wide perturbations by disease mutationsSemantic proximity Read

Towards a structurally resolved human protein interaction network.Semantic proximity Read

Three-dimensional reconstruction of protein networks provides insight into human genetic disease.Semantic proximity Read

Next Generation Protein Structure Predictions and Genetic Variant Interpretation.Semantic proximity Read

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