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Fig. 1 | Genome Medicine

Fig. 1

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

Fig. 1

Diagram of an integrative functional genomics workflow. SNPs from the PheWAS Catalog and GWAS Catalog were mapped to the whole human genome and non-coding SNPs were re-annotated with regulatory information. Protein-coding SNPs were re-annotated with protein functional information, including protein–ligand binding sites and phosphorylation sites. Based on gene regulatory annotations, we also performed a tissue-specific regulatory circuit analysis. All detailed data are provided in Additional files 1–5: Tables S1–S5

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Genome Medicine

ISSN: 1756-994X

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