What is the primary purpose of this skill?

It guides the creation and enhancement of disorder YAML files in the Dismech repository, ensuring scientific accuracy through deep research and evidence-based assertions.

Which ontologies does it support?

The skill integrates with multiple ontologies via OAK, including MONDO for diseases, HPO for phenotypes, CL for cell types, and GO for biological processes.

How does it prevent AI hallucinations?

It mandates a research-first approach, requiring the use of external deep research tools and exact snippets from verified PubMed IDs before finalizing any data entry.

Can I use this for existing disorder files?

Yes, the skill is designed both for initiating new entries and for enhancing or validating existing ones with better evidence and updated ontology terms.

Disease Mechanism Entry Creator

Name: Disease Mechanism Entry Creator
Author: monarch-initiative

bymonarch-initiative

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データサイエンスとML

Automates the creation of scientifically accurate disease mechanism entries in the Dismech knowledge base using a research-first approach.

概要

This skill facilitates the systematic creation and enhancement of disorder YAML files within the Dismech repository. It enforces a rigorous research workflow that includes deep AI-powered literature searches, ontology term alignment (MONDO, HPO, GO), and mandatory evidence linking through PubMed IDs. By integrating with the LinkML schema and OAK tools, it ensures that every disease entry is clinically accurate, properly categorized, and backed by verifiable snippets from peer-reviewed abstracts, significantly reducing the risk of AI hallucination in biomedical data curation.

主な機能

Real-time ontology term lookups for MONDO, HPO, CL, and GO
5 GitHub stars
Integrated deep research via Perplexity, Falcon, and OpenAI
Automated compliance and validation reporting for data integrity
Automated YAML generation following LinkML schema standards
Evidence-based validation using PubMed and DOI references

ユースケース

Initiating new structured entries for rare genetic disorders
Validating clinical evidence and ontology terms in a biomedical knowledge base
Enhancing existing disease records with pathophysiology mechanisms and snippets

概要

主な機能

Real-time ontology term lookups for MONDO, HPO, CL, and GO
5 GitHub stars
Integrated deep research via Perplexity, Falcon, and OpenAI
Automated compliance and validation reporting for data integrity
Automated YAML generation following LinkML schema standards
Evidence-based validation using PubMed and DOI references

ユースケース

Initiating new structured entries for rare genetic disorders
Validating clinical evidence and ontology terms in a biomedical knowledge base
Enhancing existing disease records with pathophysiology mechanisms and snippets