Exomiser 14.1.0 and 15.0.0 results (2512) with PhEval-processed outputs for models 1–4 on the Phenopacket Store (v0.1.12)
Year: 2026
Type: dataset
Abstract: This dataset contains raw outputs from Exomiser v14.1.0 (JSON and HTML) and v15.0.0 (Parquet and HTML), generated using database version 2512 on cases from the Phenopacket Store, along with corresponding PhEval-processed outputs. All analyses were performed using PhEval (v0.7.9) with the pheval.exomiser plugin (v0.4.11). Analyses were performed using Exomiser configuration models 1–4, which represent different variant filtering and prioritisation settings. Exomiser v14.1.0 results are provided for a single configuration, while v15.0.0 results are provided for all four models. The dataset comprises two main components: 1. Raw Exomiser outputs Per-case output files generated by Exomiser 2. PhEval-processed outputs Structured intermediate data derived from Exomiser outputs Standardised representations used as input for benchmarking workflows These processed outputs are not final benchmarking results, but the normalised inputs required to enable reproducible benchmarking. Results are organised by Exomiser version and model configuration. Each result directory contains: raw_results: raw Exomiser output files pheval_gene_results: PhEval-processed gene-level outputs pheval_variant_results: PhEval-processed variant-level outputs results.yml: run metadata (where available)
Institutions: Queen Mary University of London, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Jackson Laboratory, Dalle Molle Institute for Artificial Intelligence Research, University of Applied Sciences and Arts of Southern Switzerland, Lawrence Berkeley National Laboratory, The Jackson Laboratory for Genomic Medicine
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7139952004