A collection of read depth profiles at structural variant breakpoints

SWaveform is a newly created open genome-wide resource for read depth signal in the vicinity of structural variant (SV) breakpoints aims to boost development of computational tools and new algorithms for discovery of genomic rearrangement events from long- or short read sequencing data. SVs encompassing insertions, deletions, duplications, inversions and translocations are a dominant force shaping genomes and substantially contributing to genetic diversity. Still, there are challenges in reliable and efficient genotyping of SVs from whole genome sequencing data, thus delaying translation into clinical applications, and wasting valuable resources. SWaveform includes a database containing ~15M of read depth profiles at SV breakpoints extracted from 911 sequencing samples generated by the Human Genome Diversity Project, generalised patterns of the signal at breakpoints and an interface to navigate and download the data. The data set can be of immense value to bioinformatics and engineering communities as it empowers smooth application of intelligent signal processing and machine learning techniques for discovery of genomic rearrangement events and thus opens the floodgates for development of innovative algorithms and software.