Fig. 2: Functional assays of TWAS hits partially reveal mechanistic insights. | Communications Biology

Fig. 2: Functional assays of TWAS hits partially reveal mechanistic insights.

From: Functional annotation of genetic associations by transcriptome-wide association analysis provides insights into neutrophil development regulation

Fig. 2

a Systematic identification of transcriptional regulators (TRs) of TWAS hits (NEUT#) using Lisa (epigenetic Landscape In Silico deletion Analysis and the second descendent of MARGE). TRs with evidence of implication in neutrophil specification and expansion are highlighted in red. b Boxplot of TRs gene expression in 14 human hematopoietic cell types. Y-axis represents log2TPM (Transcripts Per Kilobase Million) value of genes in each sample. Data sources are detailed in “Methods” section. c GO enrichment analysis of TWAS hits (NEUT#). For best representation of the results (A and B), −log10(P-values) are reported on a linear scale for best representation of the results. Size of each plot, where available, is correlated with −log10(P-values) (linear model). d Heatmap of TWAS hits (NEUT#) in 15 human hematopoietic cell types. Rows, TWAS hits; columns, cell types. Normalized expression data of each gene were downloaded from BloodSpot (http://servers.binf.ku.dk/bloodspot/, HemaExplorer dataset). HSC, hematopoietic stem cell; MPP, multipotential progenitor; CMP, common myeloid progenitor; GMP, granulocyte monocyte progenitor; CLP, common lymphoid progenitor; MEP, megakaryocyte-erythroid progenitor cell; EB, erythroblast; MK, megakaryocyte; HPC, hematopoietic progenitor cell; mDC, myeloid dendritic cell; pDC, plasmacytoid dendritic cell.

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