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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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  Data: Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.
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  Data: <searchLink fieldCode="JN" term="%22BMC+Bioinformatics%22">BMC Bioinformatics</searchLink>. 3/22/2025, Vol. 26 Issue 1, p1-18. 18p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=183970351
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