Two audits of a RASopathy gene panel: MAVE coverage ascertainment (PS3/BS3) and computational-evidence calibration limits (PP3/BP4)
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Aug 22, 2026 - Jupyter Notebook
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mavedb
Here are 4 public repositories matching this topic...
One-directional functional evidence in RASopathy variant classification: an audit of ClinGen RASopathy VCEP classifications, reproducible from public ClinVar, MaveDB, and UniProt data.
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Aug 15, 2026 - Jupyter Notebook
Relating AlphaMissense pathogenicity predictions to experimental protein abundance across six proteins
bioinformatics protein-stability uniprot deep-mutational-scanning variant-effect-prediction mavedb alphamissense vamp-seq
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Aug 22, 2026 - Python
MCP server for MaveDB: quantitative variant-effect scores from Multiplexed Assays of Variant Effect (MAVE) and deep mutational scanning — functional evidence as typed tools for LLM agents.
bioinformatics mcp functional-genomics deep-mutational-scanning claude variant-interpretation mavedb llm-tools model-context-protocol mcp-server fastmcp variant-effect genefoundry
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Aug 31, 2026 - Python
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