PubCaseFinder

PubCaseFinder provides phenotype-driven differential-diagnosis support for rare diseases by leveraging disease-phenotype associations (DPAs) extracted from one million PubMed case reports and integrated with Orphanet-curated associations.

Key Features:

• Phenotype-driven approach: Ranks and prioritizes candidate diagnoses based on observed phenotypic features.
• Comprehensive DPA database: Integrates manually curated Orphanet associations with text-mined DPAs, increasing coverage by 125.6%.
• Text-mining of literature: Applies automated text-mining algorithms to one million PubMed case reports to extract disease-phenotype associations.
• Phenotype-based case report retrieval: Matches and retrieves case reports by phenotype-based comparison to provide contextual evidence.
• DPA integration for diagnosis: Combines extracted and curated DPAs into a unified resource for phenotype-driven differential diagnosis.

Scientific Applications:

• Rare disease differential diagnosis: Supports identification and prioritization of candidate rare disease diagnoses from phenotypic data.
• Literature-based evidence retrieval: Provides phenotype-matched case reports and expanded DPA coverage to support case-level interpretation and research on disease-phenotype relationships.

Methodology:

Automated text-mining algorithms extract disease-phenotype associations from one million PubMed case reports; the extracted DPAs are integrated with manually curated Orphanet associations to create an expanded DPA resource (125.6% coverage increase).