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Queen Mary University of London
- London
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02:32
- same time - www.linkedin.com/in/yasemin-bridges
Stars
A PhEval plugin for integrating SvAnna, enabling structural variant prioritisation in a standardised pipeline.
A PhEval plugin integrating LIRICAL for efficient phenotype and variant prioritisation in a standardised pipeline.
A PhEval plugin for integrating a test runner, enabling testing of the standardised pipeline.
A PhEval plugin for integrating Phen2Gene, enabling gene prioritisation based on phenotypic data in a standardised pipeline.
A PhEval plugin for integrating AI-MARRVEL, enabling variant prioritisation based on phenotypic data in a standardised pipeline.
Phenotype2Phenopacket is a command-line tool that converts a phenotype annotation into GA4GH Phenopackets, facilitating standardised phenotypic data representation.
A framework for empirical evaluation of phenotype matching and prioritisation