See how pathogenic your mutations are according to AlphaMissense based on your 23andme raw data

Snakemake pipeline for visualizing AlphaMissense pathogenicity score by UniProtID. Analysis of Asparagine Synthetase predictions.

Elementary interfaces to AlphaMissense resources, using BiocFileCache, Rsamtools, GenomicRanges

The Amissense Tool analyzes and visualizes AlphaMissense pathogenicity scores, integrating AlphaFold structures and ClinVar data. It offers automated pipelines, visualizations, and versatile command-line utilities.

Validation of AlphaMissense

Elementary interfaces to AlphaMissense resources, using BiocFileCache, Rsamtools, GenomicRanges

Annotate any PDB structure with AlphaMissense pathogenicity scores at the residue level.

Machine-learning triage of LDLR variants of uncertain significance using predictor concordance and ACMG-aligned evidence mapping

Alpha Missense Scores provides precomputed JSON files with AlphaMissense pathogenicity scores for protein variants. Derived from DeepMind's TSV dataset, these JSON files are can be accessed via HTTP queries. This repository allows efficient data retrieval, bypassing the need for local processing of the original TSV files.

Benchmarking AlphaMissense on PIEZO1 Variants

Computational pipeline for prioritizing structurally tractable pharmacologic rescue candidates across KCNQ1-KCNQ5.

Machine-learning triage of LDLR variants of uncertain significance using predictor concordance and ACMG-aligned evidence mapping