Smash++: an alignment-free and memory-efficient tool to find genomic rearrangements

Abstract

AbstractBackgroundThe development of high-throughput sequencing technologies and, as its result, the production of huge volumes of genomic data, has accelerated biological and medical research and discovery. Study on genomic rearrangements is crucial due to their role in chromosomal evolution, genetic disorders and cancer;ResultsWe present Smash++, an alignment-free and memory-efficient tool to find and visualize small- and large-scale genomic rearrangements between two DNA sequences. This computational solution extracts information contents of the two sequences, exploiting a data compression technique, in order for finding rearrangements. We also present Smash++ visualizer, a tool that allows the visualization of the detected rearrangements along with their self- and relative complexity, by generating an SVG (Scalable Vector Graphics) image;ConclusionsTested on several synthetic and real DNA sequences from bacteria, fungi, Aves and mammalia, the proposed tool was able to accurately find genomic rearrangements. The detected regions complied with previous studies which took alignment-based approaches or performed FISH (Fluorescence in situ hybridization) analysis. The maximum peak memory usage among all experiments was ~1 GB, which makes Smash++ feasible to run on present-day standard computers.