HPO Explorer

HPO Explorer pairs an interactive Human Phenotype Ontology browser with a client-side clinical-note-to-HPO extractor to support phenotype term exploration, phenotypic similarity analysis, candidate-disease matching, differential diagnosis, and gene prioritization.

Key Features:

• Interactive HPO Browser: Provides graph-based exploration of the complete Human Phenotype Ontology (~19,800 terms).
• Clinical Note Extractor: Extracts HPO terms from clinical text using lexical matching combined with an optional in-browser semantic-embedding pass.
• Contextual Modeling: Models negation, family history, and diagnostic uncertainty in clinical text.
• Information Content Weighting: Weights terms by annotation-frequency Information Content.
• Clinical Profile Analyzer: Performs phenotype similarity analysis, differential diagnosis, and gene prioritization.
• Privacy-Preserving Architecture: All processing runs entirely in the browser with no note text transmitted.

Scientific Applications:

• Phenotype Term Exploration: Enables interactive browsing and navigation of the complete Human Phenotype Ontology through a graph-based interface.
• Phenotype Similarity Analysis: Computes phenotypic similarity between clinical profiles using HPO terms and annotation-frequency Information Content.
• Differential Diagnosis: Supports candidate-disease matching based on extracted and weighted phenotypic features.
• Gene Prioritization: Ranks candidate genes based on phenotypic profile similarity to known disease-gene associations.
• Clinical Text Mining: Automatically extracts structured HPO terms from unstructured clinical notes while preserving patient privacy.

Methodology:

The clinical-note-to-HPO extractor combines lexical matching with an optional in-browser semantic-embedding pass, models negation, family history, and diagnostic uncertainty, and weights terms by annotation-frequency Information Content; phenotypic similarity, candidate-disease matching, and gene prioritization run entirely client-side in the browser.