PanelAppRex AI introduces a sophisticated search function within our Panel App, designed to simplify the discovery of disease gene panels.
With natural language queries, you can search by gene names, phenotypes, and other key data. Our system aggregates and analyses gene panel data from Genomics England’s PanelApp and other trusted sources. This comprehensive resource supports both the NHS National Genomic Test Directory and the virtual gene panels utilised in the 100,000 Genomes Project, providing valuable insights into disease–gene correlations and enhancing variant interpretation. We offer this dataset openly to help clinicians rapidly narrow their search space and make informed diagnoses. For further details, visit Genomics England’s PanelApp at https://panelapp.genomicsengland.co.uk/panels/. 1
Example search queries:
- Complex query: RAG1 primary immunodeficiency skin disorder paediatric
- Phenotypes: congenital heart defects
- Disease names: thoracic aortic aneurysm
- Disease groups: cardiovascular disorders
- Panel names: familial hypercholesterolaemia
- Gene names: ABL1 COL1A1 COL3A1
- GRCh38 location: 9:130713946-130887675
- Gene HGNC id: HGNC:76
- Mode of inheritance: autosomal dominant
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While our robust database underpins this tool, we are actively refining the user interface. To aid in our development, we provide open early access, allowing users to explore and utilize our evolving features. ↩
