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
Here are 15 public repositories matching this topic...
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
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
Validation of AlphaMissense
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May 15, 2025 - Python
Machine-learning triage of LDLR variants of uncertain significance using predictor concordance and ACMG-aligned evidence mapping
machine-learning xgboost vus revel clinvar acmg alphamissense variant-classification ldlr familial-hypercholesterolemia
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Apr 15, 2026 - Python
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
Annotate any PDB structure with AlphaMissense pathogenicity scores at the residue level.
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Sep 8, 2025 - Python
Five Google ADK / Agent Builder agents watching genomic evidence (ClinVar, gnomAD, AlphaMissense) synced via the Fivetran MCP and, the moment a Variant of Uncertain Significance is reclassified, recompute a calibrated ACMG posterior to draft the patient recontact + family cascade no system sends today. Draft-only, FHIR R4, human-in-the-loop.
bigquery bioinformatics genomics mcp multi-agent healthcare gemini fhir clinical-decision-support firestore acmg variant-interpretation fivetran alphafold hereditary-cancer vertex-ai alphamissense agent-builder google-adk
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Jun 10, 2026 - Python
Elementary interfaces to AlphaMissense resources, using BiocFileCache, Rsamtools, GenomicRanges
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Sep 27, 2023 - R
Calibrate functional/in-silico variant scores into ACMG clinical evidence strengths (ClinGen-SVI), with LDLR/AlphaMissense worked example
bioinformatics clinvar acmg alphamissense variant-classification clinical-genetics variant-calibration
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Jun 16, 2026 - Jupyter Notebook
Computational pipeline for prioritizing structurally tractable pharmacologic rescue candidates across KCNQ1-KCNQ5.
clinvar ion-channel structural-bioinformatics autodock-vina gnomad alphamissense variant-prioritization kcnq channelopathy precision-pharmacology
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Mar 27, 2026 - Python
Machine-learning triage of LDLR variants of uncertain significance using predictor concordance and ACMG-aligned evidence mapping
machine-learning xgboost vus revel clinvar acmg alphamissense variant-classification ldlr familial-hypercholesterolemia
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Apr 15, 2026 - Python
Supplementary Data for Pillai et al., 2026.
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Feb 19, 2026 - Python
CFTR variant pathogenicity annotation using CFTR2 and AlphaMissense. AUC 0.946 on 292 labelled variants. 7 unclassified variants predicted pathogenic with population frequency support.
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Jun 2, 2026 - Jupyter Notebook
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