Extended Data Fig. 6: Annotation of trabeculation associated loci.
From: Genetic and functional insights into the fractal structure of the heart
a, Gene expression of GTEx-associated genes and tissues. Gene expression is shown as log10-transformed transcripts per million (TPM) for genes for which the expression is associated with trabeculation loci (using GTEx look-up; Supplementary Data 3). Gene expression values and tissues were downloaded from https://www.ebi.ac.uk/gxa/home by querying: gene name AND tissue AND species; that is, GTEx gene AND heart component AND Homo sapiens. Light grey tiles indicate gene expression values for the gene–tissue pair that are not available. b, Enrichment of trabeculation-associated variants in DNase I hypersensitive sites for all available tissues in GARFIELD. GARFIELD was used to compute the functional enrichment (odds ratio (OR)) of genetic variants associated with the trabeculation phenotypes (GWAS: n = 18,096 individuals, P values derived from linear association t-statistics) at P < 10−6 for open chromatin regions. The results across all available studies per tissue are shown as box plots. Lower and upper hinges, 25th and 75th percentiles (IQR); horizontal line, median; lower and upper whiskers extend from the hinge to the smallest and largest value no further than 1.5× the IQR.
