Reference: O'Donnell S and Fischer G (2020) MUM&Co: accurate detection of all SV types through whole-genome alignment. Bioinformatics 36(10):3242-3243

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Abstract


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

Availability and implementation: https://github.com/SAMtoBAM/MUMandCo.

Supplementary information: Supplementary data are available at Bioinformatics online.

Reference Type
Journal Article | Research Support, Non-U.S. Gov't
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O'Donnell S, Fischer G
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