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Fig. 3 | Genome Medicine

Fig. 3

From: An integrative functional genomics framework for effective identification of novel regulatory variants in genome–phenome studies

Fig. 3

Overview of PheWAS associations in the genome after functional annotation. a This matrix shows the number of functional SNPs for their respective phenotype. b The Circos plot showing the PheWAS associations in different types of functional data. Red triangles represent the associations in the GWAS Catalog only, green circles represent GWAS Catalog associations replicated by PheWAS (P < 0.05), and blue diamonds represent new phenotype associations identified by PheWAS (P < 4.6 × 10−6 or FDR < 0.1)

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Genome Medicine

ISSN: 1756-994X

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