BioinformaticsBMC BioinformaticsPeer-reviewed
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…·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.
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