13. Remember breakpoint two: Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements

Abstract

HiC proximity-based sequencing has revealed that genomes are organized into megabase-sized topological associating domains (TADs) as units for cis-regulatory interactions. In a joint analysis across consortia studies led by the International Breakpoint Mapping Consortium (IBMC) and the Developmental Genome Anatomy Project (DGAP), we have used systematic mapping of 1,420 breakpoints from simple two-way balanced constitutional chromosomal rearrangements (BCRs) from both affected and healthy carriers to establish a first morbid map of this 3D-genome organization.