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

Bioinformatics · 2026 · PMC12967215 · PMID 41557842

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highly significantno p-value reported

Gene enrichment analysis for disease ontology showed that “Tetralogy of Fallot,” a representative malformation within the conotruncal subtype, showed highly significant association (adj.

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