MUM&Co: accurate detection of all SV types through whole-genome alignment.

摘要: Summary MUM&Co is a single bash script to detect structural variations (SVs) utilizing whole-genome alignment (WGA). Using MUMmer's nucmer alignment, can insertions, deletions, tandem duplications, inversions and translocations greater than 50 bp. Its versatility depends upon the WGA therefore benefits from contiguous de-novo assemblies generated by third generation sequencing technologies. Benchmarked against five SV-calling tools, outperforms all tools on simulated SVs in yeast, plant human genomes performs similarly two real datasets. Additionally, particularly unique its ability find both Lastly, MUM&Co's primary output an intuitive tabulated file containing list of with only necessary genomic details. Availability implementation https://github.com/SAMtoBAM/MUMandCo. Supplementary information data are available at Bioinformatics online.