Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants.

MOTIVATION: Methods 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.

RESULTS

We 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.