Identify mutations without complex pipelines

Cancer samples often display a high number of structural rearrangements or changes and the limitation caused by the short-read length of NGS is particularly detrimental for making sense of complex successions of event, such as in chromothripsis. In this patient-derived breast cancer cell line, a consensus map resulting from the alignment of dozens of molecules spanning the region allowed optical mapping to identify a succession of a translocation, deletions and an inversion missed by short-read and long read-sequencing.