scientific-clingen-curation

Automate ClinGen gene-disease evidence curation across validity, dosage sensitivity, and actionability.

3|1|Updated Feb 11, 2026
One-click install
npx skills add https://github.com/nahisaho/satori --skill scientific-clingen-curation
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: scientific-clingen-curation
Source: https://github.com/nahisaho/satori/tree/main/src/.github/skills/scientific-clingen-curation
Command: npx skills add https://github.com/nahisaho/satori --skill scientific-clingen-curation

SYSTEM DOCUMENTATION & REQUIREMENTS

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.

Frequently Asked Questions about scientific-clingen-curation

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I automate ClinGen gene-disease validity curation for multiple genes?

To automate ClinGen gene-disease validity curation, you can batch query multiple genes via the ClinGen API to fetch and format evidence classifications into a scalable CSV output for clinical workflows.

What is ClinGen dosage sensitivity assessment and how is it evaluated?

ClinGen dosage sensitivity assessment evaluates gene haploinsufficiency and triplosensitivity evidence. It is evaluated by querying the ClinGen API to retrieve clinical interpretation scores for downstream decision support.

Can I retrieve ClinGen clinical actionability scores through an API?

Yes, you can retrieve ClinGen clinical actionability scores through the ClinGen API. The pipeline handles API calls and response formatting to integrate actionability data into clinical decision support.

Does the ClinGen curation pipeline support batch queries for scalable clinical integration?

Yes, the ClinGen curation pipeline supports batch queries across multiple genes. This enables scalable integration of gene-disease validity, dosage sensitivity, and actionability data into clinical workflows.

How do I export ClinGen gene-disease evidence results to CSV?

To export ClinGen gene-disease evidence results to CSV, run the curation pipeline to fetch validity, dosage sensitivity, and actionability data for target genes. The pipeline formats API responses for downstream output.