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

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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Main Authors: 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: Article
Language:English
Published: BMC 2025-03-01
Series:BMC Bioinformatics
Subjects:
Variant prioritisation
Phenopackets
Benchmarking Framework
Phenotype-driven analysis
Bioinformatics
Rare disease diagnosis
Online Access:https://doi.org/10.1186/s12859-025-06105-4
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https://doi.org/10.1186/s12859-025-06105-4

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