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bioRxiv · 10.64898/2026.01.05.697749

DISGENET: Accelerating Data-Driven Discovery in Disease Genomics and Therapeutic Development

Pinero, J.·Corvi, J.·Rykova, N.·Guillem, A.·Martinez, A.·Zufiaur, J. T.·Rivetta, I.·Holmes, S.·Del Boccio, M.·Shapoval, D.·Szneiderowicz, M. D. S.·Slager, F.·Sanz, F.·Furlong, L. I.
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Abstract

Precision medicine and therapeutic development rely on a comprehensive understanding of genotype-phenotype relationships, yet this information remains fragmented across diverse sources. DISGENET, established over 15 years ago, addresses this challenge by systematically integrating gene-disease, variant-disease, and disease-disease associations from authoritative databases and the literature. This major upgrade expands coverage with chemical and pharmacological annotations and integrates biobank and clinical data. An advanced natural language processing (NLP) pipeline captures emerging evidence with full provenance and contextual details, key to streamlining data-driven insights. DISGENET supports diverse users through multiple tools, including an intuitive web interface, a REST API, an R package, a Cytoscape app, and an AI assistant for natural language queries. Quarterly updates ensure data currency, while a sustainable freemium model provides free academic access and supports ongoing development. DISGENET aims to accelerate data-driven discoveries and advance precision medicine and drug development. The platform is accessible at https://www.disgenet.com. Graphical Abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=80 SRC="FIGDIR/small/697749v1_ufig1.gif" ALT="Figure 1"> View larger version (33K): org.highwire.dtl.DTLVardef@1cf5b9aorg.highwire.dtl.DTLVardef@87004aorg.highwire.dtl.DTLVardef@1243b2borg.highwire.dtl.DTLVardef@1a8adab_HPS_FORMAT_FIGEXP M_FIG C_FIG HighlightsO_LIDISGENET accelerates precision medicine via comprehensive genotype-phenotype data C_LIO_LIAccess to gene, variant, disease, and drug data in a single platform C_LIO_LIUp-to-date evidence with provenance and full context C_LIO_LISuite of tools to serve diverse research and clinical communities C_LIO_LISustainable freemium model ensures ongoing platform innovation. C_LI

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Pinero, J., Corvi, J., Rykova, N., Guillem, A., Martinez, A., Zufiaur, J. T., Rivetta, I., Holmes, S., Del Boccio, M., Shapoval, D., Szneiderowicz, M. D. S., Slager, F., Sanz, F., Furlong, L. I.. 2026-01-05. DISGENET: Accelerating Data-Driven Discovery in Disease Genomics and Therapeutic Development. https://doi.org/10.64898/2026.01.05.697749

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