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alphamissense

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

  • UpdatedSep 20, 2023
  • Python

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

  • UpdatedNov 9, 2023
  • R

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

  • UpdatedSep 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.

  • UpdatedAug 22, 2024

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

  • UpdatedSep 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.

  • UpdatedOct 6, 2024
  • Python

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