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Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework by 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
Published 2025-03-01Get full text
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Phenopacket-tools: Building and validating GA4GH Phenopackets. by Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith, Lauren Rekerle, Leigh C Carmody, Justin Reese, Harshad Hegde, Markus S Ladewig, Berthold Seitz, Monica Munoz-Torres, Nomi L Harris, Jordi Rambla, Michael Baudis, Christopher J Mungall, Melissa A Haendel, Peter N Robinson
Published 2023-01-01Get full text
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