Over the last decade, the emergence of high-throughput sequencing has led to an increase in both the size and scope of genome sequencing projects. Although genome sequencing and analysis has changed dramatically during this time, the way read alignments are visualised has remained largely unchanged. To address the problem of visualising growing sequencing datasets, we have developed DiscoPlot, a tool for visualising read alignments using a two-dimensional scatterplot. DiscoPlot allows the user to quickly identify genomic rearrangements, misassemblies and sequencing artefacts by providing a scalable method for visualising large sections of the genome. It reads single-end or paired read alignments in SAM, BAM or standard BLAST tab format and creates a scatter plot of opaque crosses representing the alignments to a reference. DiscoPlot is freely available (under a GPL license) for download (Mac OS X, Unix and Windows) at https://mjsull.github.io/DiscoPlot.
nFuse: Discovery of complex genomic rearrangements in cancer using high-throughput sequencing