scientific-clingen-curation
CommunityClinGen data curation for gene-disease evidence.
Data & Analytics#curation#variant-interpretation#clingen#genedisease#clinical-actionability#dosage-sensitivity
Authornahisaho
Version1.0.0
Installs0
System Documentation
What problem does it solve?
ClinGen clinical genome resource curation helps researchers and clinicians rapidly assess gene-disease evidence, enabling consistent, scalable data curation.
Core Features & Use Cases
- Gene-disease validity evaluation via ClinGen API for evidence classification.
- Dosage sensitivity assessment (haploinsufficiency/triplosensitivity) to inform clinical interpretations.
- ClinGen actionability scoring and integrated curation pipeline for clinical decision support.
- ToolUniverse integration: ClinGen data accessible through the clingen resource.
Quick Start
Run ClinGen pipeline to fetch gene-disease validity, dosage sensitivity, and actionability data for your target genes and output results to CSV.
Dependency Matrix
Required Modules
None requiredComponents
Standard package💻 Claude Code Installation
Recommended: Let Claude install automatically. Simply copy and paste the text below to Claude Code.
Please help me install this Skill: Name: scientific-clingen-curation Download link: https://github.com/nahisaho/satori/archive/main.zip#scientific-clingen-curation Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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