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Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.

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Title: Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.
Authors: Bridges, Yasemin1 (AUTHOR) y.bridges@qmul.ac.uk, Souza, Vinicius de2 (AUTHOR), Cortes, Katherina G.3 (AUTHOR), Haendel, Melissa4 (AUTHOR), Harris, Nomi L.5 (AUTHOR), Korn, Daniel R.4 (AUTHOR), Marinakis, Nikolaos M.6 (AUTHOR), Matentzoglu, Nicolas7 (AUTHOR), McLaughlin, James A.8 (AUTHOR), Mungall, Christopher J.5 (AUTHOR), Odell, Aaron4 (AUTHOR), Osumi-Sutherland, David9 (AUTHOR), Robinson, Peter N.10 (AUTHOR), Smedley, Damian1 (AUTHOR), Jacobsen, Julius O. B.1 (AUTHOR)
Source: BMC Bioinformatics. 3/22/2025, Vol. 26 Issue 1, p1-18. 18p.
Database: Academic Search Ultimate
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ISSN:14712105
DOI:10.1186/s12859-025-06105-4