PhEval: A Framework for Evaluating Phenotype-Driven Variant and Gene Prioritisation Algorithms

This repository contains the complete corpora and PhEval processed TSV results referenced in the study "PhEval: A Framework for Evaluating Phenotype-Driven Variant and Gene Prioritisation Algorithms". The provided materials are integral to the benchmarking process and include: Phenopacket Corpora: Phenotype-Only Dataset: Phenopacket store containing phenotypic data without genomic or structural variant information. Phenotype and Genomic Variant Dataset: Phenopacket store with phenotypic data and associated genomic variants. Phenotype and Structural Variant Dataset: Structural variant corpus combining phenotypic data with structural variant information. PhEval TSV Results: TSV files summarizing the outcomes of nine different benchmarking configurations tested in the paper, including: Phenotype-Only Tools: Exomiser (phenotype-only mode), Phen2Gene, PhenoGenius, and GADO. Phenotype and Genomic Variant Tools: Exomiser (with VCF), LIRICAL, and AI-MARRVEL. Structural Variant Tools: Exomiser and SvAnna.