clingen

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Here are 4 public repositories matching this topic...

sabahzero / SuLab-Projects

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Su Lab Research Items at Scripps Research

python jenkins tsri scripps clingen sulab

Updated Apr 17, 2020
Jupyter Notebook

Fernandosr85 / rasopathy-evidence-audits

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Two audits of a RASopathy gene panel: MAVE coverage ascertainment (PS3/BS3) and computational-evidence calibration limits (PP3/BP4)

acmg mavedb gnomad clinical-genomics clingen variant-classification rasopathies

Updated Aug 22, 2026
Jupyter Notebook

Experts-in-CMT / cmt-gene-browser

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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

Updated Aug 16, 2026

berntpopp / clingen-link

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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

Updated Aug 21, 2026
Python

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