PanelAppRex aggregates disease gene panels and facilitates sophisticated search
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Motivation
Gene panel data provides critical insights into disease-gene correlations. However, aggregating and interrogating this diverse dataset can be challenging. PanelAppRex addresses this by first preparing a machine-readable aggregate and second by offering a sophisticated natural search interface that streamlines data exploration for both clinical and research applications.
Results
PanelAppRex aggregates gene panel data from source including Cli-Var, UniProt, and Genomics England (GE)’s PanelApp, including the approved panels used in the NHS National Genomic Test Directory and the 100,000 Genomes Project. It enables users to execute complex queries by gene names, phenotypes, disease groups and more, returning integrated datasets in multiple downloadable formats. Benchmarking demonstrates 93% - 100% accuracy, effectively simplifying variant discovery and interpretation to enhance workflow efficiency. The greatest benefit is the analysis ready format for bioinformatic integration.
Availability
https://switzerlandomics.ch/services/panelAppRexAi/ (A standalone webpage will be substituted for publication version). The source code and data are accessible at https://github.com/DylanLawless/PanelAppRex . PanelAppRex is available under the MIT licence. The dataset is maintained for a minimum of two years following publication.
