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clingen
Here are 4 public repositories matching this topic...
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
Curated, gene-resolved dataset behind the Experts in CMT CMT Gene Browser: genes and subtypes of Charcot-Marie-Tooth disease with classifications and authoritative references. CC BY 4.0.
genomics genetics open-data dataset cmt rare-disease clingen neuropathy panelapp charcot-marie-tooth
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Aug 16, 2026
MCP server for ClinGen (Clinical Genome Resource): gene–disease validity, dosage sensitivity, clinical actionability, and expert-panel variant pathogenicity (ERepo) — as typed tools for LLM agents.
bioinformatics genomics mcp claude variant-interpretation clingen llm-tools gene-curation model-context-protocol mcp-server fastmcp clinical-genetics genefoundry
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Aug 31, 2026 - Python
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