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 performance of VGPAs has been difficult to measure and is impacted by many factors, for example, ontology structure, annotation completeness or changes to the underlying algorithm. Assertions of the capabilities of VGPAs are often not reproducible, in part because there is no standardised, empirical framework and openly available patient data to assess the efficacy of VGPAs-ultimately hindering the development of effective prioritisation tools.

Results

In this paper, we present our benchmark

SUBMITTER: Bridges Y 

PROVIDER: S-EPMC11929307 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature