Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework
Yasemin Bridges, Vinícius de Souza, Katherina G Cortes, Melissa Anne Haendel, Nomi L. Harris, Daniel Korn, Nikolaos M. Marinakis, Nicolas Matentzoglu, James Alastair McLaughlin, Chris Mungall, Aaron T. Odell, David Osumi-Sutherland, Peter N. Robinson, Damian P. Smedley, Julius O.B. Jacobsen
PhEval provides a standardized framework to benchmark phenotype-driven variant and gene prioritisation algorithms using real-world patient data and controlled test corpora.
BMC Bioinformatics · Mar 22, 2025Peer-reviewedBioinformatics