Exploring Genome Characteristics and Sequence Quality Without a Reference

Exploring Genome Characteristics and Sequence Quality Without a Reference
Jared T. Simpson
(Submitted on 30 Jul 2013)

The de novo assembly of large, complex genomes is a significant challenge with currently available DNA sequencing technology. While many de novo assembly software packages are available, comparatively little attention has been paid to assisting the user with the assembly. This paper addresses the practical aspects of de novo assembly by introducing new ways to perform quality assessment on a collection of DNA sequence reads. The software implementation calculates per-base error rates, paired-end fragment size histograms and coverage metrics in the absence of a reference genome. Additionally, the software will estimate characteristics of the sequenced genome, such as repeat content and heterozygosity, that are key determinants of assembly difficulty. The software described is freely available and open source under the GNU Public License.

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