See how pathogenic your mutations are according to AlphaMissense based on your 23andme raw data
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Sep 20, 2023 - Python
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alphamissense
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Snakemake pipeline for visualizing AlphaMissense pathogenicity score by UniProtID. Analysis of Asparagine Synthetase predictions.
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Nov 9, 2023 - R
Elementary interfaces to AlphaMissense resources, using BiocFileCache, Rsamtools, GenomicRanges
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Sep 27, 2023 - R
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.
api json bioinformatics json-api deepmind uniprot alphamissense protein-variants pathogenicity-scores
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Aug 22, 2024
Elementary interfaces to AlphaMissense resources, using BiocFileCache, Rsamtools, GenomicRanges
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Sep 27, 2023 - R
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.
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Oct 6, 2024 - Python
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