Language

English

Publication Date

2-28-2026

Journal

Bioinformatics

DOI

10.1093/bioinformatics/btag013

PMID

41557842

PMCID

PMC12967215

PubMedCentral® Posted Date

1-20-2026

PubMedCentral® Full Text Version

Post-print

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.

Keywords

Humans, Genetic Variation, Computational Biology, Software, Databases, Genetic, Gene Regulatory Networks, Heart Defects, Congenital

Comments

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.

Published Open-Access

yes

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