From short reads to chromosome-scale genome assemblies

Kyle Fletcher, Richard W Michelmore

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

A high-quality, annotated genome assembly is the foundation for many downstream studies. However, obtaining such an assembly is a complex, reiterative process that requires the assimilation of high-quality data and combines different approaches and data types. While some software packages incorporating multiple steps of genome assembly are commercially available, they may not be flexible enough to be routinely applied to all organisms, particularly to nonmodel species such as pathogenic oomycetes and fungi. If researchers understand and apply the most appropriate, currently available tools for each step, it is possible to customize parameters and optimize results for their organism of study. Based on our experience of de novo assembly and annotation of several oomycete species, this chapter provides a modular workflow from processing of raw reads, to initial assembly generation, through optimization, chromosome-scale scaffolding and annotation, outlining input and output data as well as examples and alternative software used for each step. The accompanying Notes provide background information for each step as well as alternative options. The final result of this workflow could be an annotated, high-quality, validated, chromosome-scale assembly or a draft assembly of sufficient quality to meet specific needs of a project.

Original languageEnglish (US)
Title of host publicationMethods in Molecular Biology
PublisherHumana Press Inc.
Pages151-197
Number of pages47
DOIs
StatePublished - Jan 1 2018

Publication series

NameMethods in Molecular Biology
Volume1848
ISSN (Print)1064-3745

Keywords

  • Assembly quality
  • Contig scaffolding
  • Genome annotation
  • Genome assembly
  • Hi-C
  • Next-generation sequencing
  • Optical maps

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

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  • Cite this

    Fletcher, K., & Michelmore, R. W. (2018). From short reads to chromosome-scale genome assemblies. In Methods in Molecular Biology (pp. 151-197). (Methods in Molecular Biology; Vol. 1848). Humana Press Inc.. https://doi.org/10.1007/978-1-4939-8724-5_13