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.SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. |
| Year of Publication | 2026
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| Journal | Bioinformatics (Oxford, England)
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| Date Published | 01/2026
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| ISSN | 1367-4811
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| DOI | 10.1093/bioinformatics/btag013
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| PubMed ID | 41557842
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