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Chunk #59 — Online Methods — Statistical methods — Functional analyses

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Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.
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We query SNVs against PhenoScanner16 to investigate trait pleiotropy, extracting all association results with nominal significance at P < 0.05 for full reporting (Supplementary Table 16), and then extract genome-wide significant results to highlight the validated loci with strongest evidence of association with other traits (Supplementary Fig. 5a). We also use the Genomic Regions Enrichment of Annotations Tool (GREAT) to study gene set enrichment of mouse phenotype and disease ontology terms within our validated and previously reported loci at the time of analysis, using default SNV to gene mapping settings73.