Published in

BioMed Central, BMC Genomics, 1(20), 2019

DOI: 10.1186/s12864-019-6153-8

Links

Tools

Export citation

Search in Google Scholar

Hecaton: reliably detecting copy number variation in plant genomes using short read sequencing data

Journal article published in 2019 by Raúl Y. Wijfjes ORCID, Sandra Smit ORCID, Dick de Ridder ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Green circle
Postprint: archiving allowed
Green circle
Published version: archiving allowed
Data provided by SHERPA/RoMEO

Abstract

Abstract Background Copy number variation (CNV) is thought to actively contribute to adaptive evolution of plant species. While many computational algorithms are available to detect copy number variation from whole genome sequencing datasets, the typical complexity of plant data likely introduces false positive calls. Results To enable reliable and comprehensive detection of CNV in plant genomes, we developed Hecaton, a novel computational workflow tailored to plants, that integrates calls from multiple state-of-the-art algorithms through a machine-learning approach. In this paper, we demonstrate that Hecaton outperforms current methods when applied to short read sequencing data of Arabidopsis thaliana, rice, maize, and tomato. Moreover, it correctly detects dispersed duplications, a type of CNV commonly found in plant species, in contrast to several state-of-the-art tools that erroneously represent this type of CNV as overlapping deletions and tandem duplications. Finally, Hecaton scales well in terms of memory usage and running time when applied to short read datasets of domesticated and wild tomato accessions. Conclusions Hecaton provides a robust method to detect CNV in plants. We expect it to be of immediate interest to both applied and fundamental research on the relationship between genotype and phenotype in plants.