Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.

Nature · 2026 · PMC13083251 · PMID 41639462

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highly significantno p-value reported

Highly significant CNV-based trans -pQTLs often coincides with single nucleotide polymorphism (SNP)-based signals (Supplementary Fig. 6a,b ), indicating that integrating CNVs into pQTL studies adds value and highlighting proteogenomic discoveries not detected by SNVs alone.

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