PanelAppRex aggregates disease gene panels and facilitates sophisticated search

Clicks: 39
ID: 313536
2026
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Abstract
Abstract Motivation Gene panel data are essential for variant interpretation and genomic diagnostics, but existing resources are fragmented, inconsistently annotated, and not easily accessible for programmatic use. We developed PanelAppRex, a harmonised dataset and interactive search tool that integrates over 58,000 curated gene-disease panel associations. It supports natural language-style queries by gene, phenotype, disease group, and mode of inheritance, with results returned in machine-readable export formats. Results The resulting dataset includes standardised gene identifiers, disease annotations, mode of inheritance, and literature support, enabling seamless integration into bioinformatic pipelines. We benchmarked fifteen case studies spanning immunology, neurology, and additional disease areas. Under the recommended usage, in which the union of returned panels is considered, the causal gene was recovered in every case. Across all returned panels, the causal gene was present in 85.6% of panels. For manual interface interpretation, the causal gene was present in the user-selected best-fit panel(s) in all fifteen benchmarked cases. Availability The platform data is openly available at Zenodo https://doi.org/10.5281/zenodo.15736689, with source code at https://github.com/DylanLawless/PanelAppRex, and demonstration page at https://panelapprex.github.io/landing_page. The dataset is maintained for a minimum of two years following publication.
Reference Key
openalex_W7161310919 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Quant Group, Simon Boutry, Ali Saadat, Sinisa Savic, Luregn J Schlapbach, Jacques Fellay, Dylan Lawless
Journal Bioinformatics advances
Year 2026
DOI
10.1093/bioadv/vbag115
URL
https://doi.org/10.1093/bioadv/vbag115
Keywords Keywords not found

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