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bioRxiv · 10.1101/393488

NucBreak: Location of structural errors in a genome assembly by using paired-end Illumina reads

Khelik, K.·Sandve, G. K.·Nederbragt, A. J.·Rognes, T.
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Abstract

BackgroundAdvances in whole genome sequencing strategies have provided the opportunity for genomic and comparative genomic analysis of a vast variety of organisms. The analysis results are highly dependent on the quality of the genome assemblies used. Assessment of the assembly accuracy may significantly increase the reliability of the analysis results and is therefore of great importance.\n\nResultsHere, we present a new tool called NucBreak aimed at detecting structural errors in assemblies, including insertions, deletions, duplications, inversions, and different inter-and intra-chromosomal rearrangements. NucBreak analyses the alignments of reads properly mapped to an assembly and exploits information about the alternative read alignments. We have compared NucBreak with other existing assembly accuracy assessment tools, namely Pilon, REAPR, and FRCbam as well as with several structural variant detection tools, including BreakDancer, Lumpy, and Wham, by using both simulated and real datasets.\n\nConclusionsThe benchmarking results have shown that NucBreak in general predicts assembly errors of different types and sizes with relatively high sensitivity and with higher precision than the other tools. Such a balance between sensitivity and precision makes NucBreak a good alternative to the existing assembly accuracy assessment tools and SV detection tools. NucBreak is freely available at https://github.com/uio-bmi/NucBreak under the MPL license.

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Khelik, K., Sandve, G. K., Nederbragt, A. J., Rognes, T.. 2018-08-16. NucBreak: Location of structural errors in a genome assembly by using paired-end Illumina reads. https://doi.org/10.1101/393488

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