Figure 1. Nearly all disease-associated short tandem repeats (daSTRs) susceptible to pathologic instability are positioned at chromatin domain boundaries in human embryonic stem cells.
(A-B) Heatmaps of 40 kilobase binned Hi-C data in human embryonic stem cells. (A) daSTR loci co-localized with TAD (blue) and (B) subTAD (yellow) boundaries. Genes (green) containing the daSTR (red) are shown in the tracks below heatmaps. Domain boundaries at the daSTR are demarcated with a black arrow. (C) Stacked bar plot showing number of daSTRs located at TAD, subTAD, or qualitative domain boundaries in human embryonic stem cells. TAD/subTAD calls were determined using the DI-HMM and 3DNetMod methods as detailed in Methods. See also Figures S1-S3.
