Article

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

2024-06-16

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> 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 performance of VGPAs has been difficult to measure and is impacted by many factors, for example, on...

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Literature Corpus work: c8c3f999-6c80-59b7-9fce-cd9b5c00313d
DOI: 10.1101/2024.06.13.598672

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