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1. monarch-initiative/pheval monarch-initiative/pheval Public

   A framework for empirical evaluation of phenotype matching and prioritisation

   Python 12 2

2. monarch-initiative/pheval.exomiser monarch-initiative/pheval.exomiser Public

   Exomiser plugin for PhEval.

   Python 4 1

3. pheval.ai_marrvel pheval.ai_marrvel Public

   A PhEval plugin for integrating AI-MARRVEL, enabling variant prioritisation based on phenotypic data in a standardised pipeline.

   Python 2

4. pheval-runner-template pheval-runner-template Public

   Python 1

5. monarch-initiative/phenotype2phenopacket monarch-initiative/phenotype2phenopacket Public

   Phenotype2Phenopacket is a command-line tool that converts a phenotype annotation into GA4GH Phenopackets, facilitating standardised phenotypic data representation.

   Python 2 1

6. monarch-initiative/pheval.phen2gene monarch-initiative/pheval.phen2gene Public

   A PhEval plugin for integrating Phen2Gene, enabling gene prioritisation based on phenotypic data in a standardised pipeline.

   Python 2