Article

PanelAppRex aggregates disease gene panels and facilitates sophisticated search

2025-03-20

Abstract excerpt

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 present PanelAppRex, a har-monised dataset and interactive search tool that integrates over 58,000 curated gene-disease panel associations, including NHS-approved diagnostic panels. It supports natural language-style qu...

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Literature Corpus work: 1b488508-1110-5d4c-adfd-973b825bbd76
DOI: 10.1101/2025.03.20.25324319

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