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

Table 1 VGPA tools evaluated as part of the experiment

	Corpus	VGPA Tool	Version
Phenotype-only analysis	4K corpus	Exomiser	14.0.2 & 2406 db release
		GADO	1.0.4
		Phen2Gene	1.2.3
		PhenoGenius	1.1.1
Phenotype + genomic analysis (phenotypes + VCF)	4K corpus	Exomiser	14.0.2 & 2406 db release
		LIRICAL	2.0.2
		AI-MARRVEL	0.1.0
Phenotype + structural variant analysis	Structural variant corpus	Exomiser	14.0.2 & 2406 db release
Phenotype + structural variant analysis	Structural variant corpus	SvAnna	1.0.4

The entire experimental setup, with the exception of the private corpora, is available at https://github.com/monarch-initiative/pheval-paper

ISSN: 1471-2105