Fig. 1

Hi-C detects chromosomal rearrangements. a Overview of the Hi-C method. b Cartoon representation of cross-linked DNA in a normal nucleus (top) and both unbalanced and balanced translocation carrying nuclei, with derivative chromosomes (der) demarked. Representative paired end reads and theoretical heatmaps are also shown. c Partial heatmaps for chromosomes 11 and 22 generated from two sets of Hi-C data performed on human cell lines from an Emanuel syndrome patient and balanced translocation carrier. The red box outlines interactions observed from the derivative chromosome 22 and the green box outlines those from the derivative chromosome 11 (up to the centromere). Ideograms for chromosomes 11 and 22 are provided alongside for reference. d Hi-C interaction heatmap of a mouse cell line showing unsuspected chromosomal rearrangements. Chromosomes are listed along the x and y axes in numerical order. All three suspected translocations are enlarged and were confirmed by fluorescence in-situ hybridisation (FISH), as can be seen by the co-localisation of probes from different chromosomes (one red and one green) on a single metaphase chromosome (inset)