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

Abstract Background: Computational approaches to support rare disease diagnosis are challenging to build, requiring the integration of complex data types such as ontologies, gene-to-phenotype associations, and cross-species data into variant and gene prioritisation algorithms (VGPAs). However, the p...

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Bibliografiske detaljer

Principais autores:	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
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2025-03-01
Serier:	BMC Bioinformatics
Fag:	Variant prioritisation Phenopackets Benchmarking Framework Phenotype-driven analysis Bioinformatics Rare disease diagnosis
Online adgang:	https://doi.org/10.1186/s12859-025-06105-4
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