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Fig. 3 | Human Genomics

Fig. 3

From: Contribution of 3D genome topological domains to genetic risk of cancers: a genome-wide computational study

Fig. 3

Preferential location of daSNPs in TAD borders occurs relatively more often for cancers. A comparison of the fraction of cancers (orange) and fraction of non-cancer diseases (blue) displaying TAD-border enrichment is presented for various filters on the GWAS catalog: considering all daSNPs, then only exonic, intronic, or intergenic daSNPs. Only diseases displaying enrichment for a majority of values of the TopDom window-size parameter k are included (see Methods). A Aggregation over five cell types (six datasets) using data at 10 kb-resolution from [30]. BG Detailed comparison for each of the six datasets, where the cell type is indicated above each panel, together with the restriction enzyme (DpnII or MboI) used in the Hi-C experiment. Stars indicate when the difference between cancers and non-cancer diseases is statistically significant (Fisher exact test, *p \(\le\) 0.05, **p \(\le\) 0.01, ****p \(\le\) 0.0001). Analyses for data from [19, 36,37,38] are presented in Additional file 1: Fig. S7

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