Vinícius de Souza

PhEval provides a standardized framework to benchmark phenotype-driven variant and gene prioritisation algorithms using real-world patient data and controlled test corpora.

The paper introduces uPheno, a framework for cross-species phenomics integration by harmonizing phenotype data across species and ontologies.

This paper introduces OBA, a formalized ontology for biological attributes to facilitate data integration across phenotypic, genetic, and environmental data.