ArticleBioinformatics (Oxford, England)2026
Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants.
Article in Bioinformatics (Oxford, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- The Common Fund Data Ecosystem (CFDE).bioRxiv : the preprint server for biology · 2026Article
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Authors and funding
25 authors.
Funding
Abstract
motivationMethods for sharing gene regulatory information and knowledge on FAIR principles, particularly in the context of tissue-specific gene regulation, remain poorly defined and implemented, hampering discovery and clinical genetic diagnosis.
resultsWe specified FAIR principles for tissue-specific gene regulatory information and knowledge; implemented them by developing a registry of regulatory elements and aggregating FAIR gene regulatory information from several major sources; developed computational tools that utilize these FAIR resources; and demonstrated their utility by associating gene regulatory variants with major subtypes of congenital heart disease. AVAILABILITY AND IMPLEMENTATION: Variant prioritization infrastructure tools are available in genboree node repository at https://genboree.org/verdaccio/#/. Detailed documentation is available at https://ldh.clinicalgenome.org/docs/ldh/overview.html#related-services. The code for use case analyses and free access variant data is available on Zenodo with DOI: https://doi.org/10.5281/zenodo.17833070.
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