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

Bioinformatics (Oxford, England)
Authors
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.SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Year of Publication
2026
Journal
Bioinformatics (Oxford, England)
Date Published
01/2026
ISSN
1367-4811
DOI
10.1093/bioinformatics/btag013
PubMed ID
41557842
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