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

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Abstract
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.
Funding Information
  • National Institutes of Health Office of the Director (OT2 OD038054)
  • National Institutes of Health Office of the Director (U54 OD030165)
  • National Institutes of Health Office of the Director (OT2 OD030547)
  • National Human Genome Research Institute (U24 HG009649)
  • National Human Genome Research Institute (U24 HG012108)
  • National Institute on Aging (U01 AG072439)

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