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Phenotype Tools and Algorithms

Tools and repositories for defining, finding, and validating computable phenotypes.

Repositories

  • PheWAS Catalog

    • A repository for Phenome-Wide Association Studies (PheWAS). It provides a catalog of analysis results and methods for analyzing many phenotypes compared to a single genetic variant.

  • OHDSI Phenotype Library

    • A community-driven library of phenotype definitions using the OMOP Common Data Model.

Tools & Frameworks

  • PheValuator

    • An OHDSI tool for semi-automated evaluation of phenotype performance (sensitivity, specificity, PPV) using diagnostic predictive modeling.

  • POPDx

    • An automated framework for patient phenotyping that utilizes EHR data to predict phenotypes across large populations.

  • PheNorm

    • Developed by CELEHS (Center for Electronic Health Informatics and Surveillance), PheNorm is an automated phenotype definition algorithm using EHR data.

  • KoMAP

    • KoMAP (Knowledge-based Multi-modal Automated Phenotyping) leverages medical knowledge to improve phenotype classification.