Yasemin Bridges, Vinicius de Souza, Katherina G. Cortes, Melissa Haendel, Nomi L. Harris, Daniel R. Korn, Nikolaos M. Marinakis, Nicolas Matentzoglu, James A. McLaughlin, Christopher J. Mungall, Aaron Odell, David Osumi-Sutherland, Peter N. Robinson, Damian Smedley, Julius O. B. Jacobsen. Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework. BMC Bioinformatics, 26(1):87, December 2025. [doi]
Abstract is missing.