HaploMerger2: rebuilding both haploid sub-assemblies from high-heterozygosity diploid genome assembly

Abstract

SUMMARY: De novo assembly is a difficult issue for heterozygous diploid genomes. The advent of high-throughput short-read and long-read sequencing technologies provides both new challenges and potential solutions to the issue. Here, we present HaploMerger2 (HM2), an automated pipeline for rebuilding both haploid sub-assemblies from the polymorphic diploid genome assembly. It is designed to work on pre-existing diploid assemblies, which are typically created by using de novo assemblers. HM2 can process any diploid assemblies, but it is especially suitable for diploid assemblies with high heterozygosity (≥3%), which can be difficult for other tools. This pipeline also implements flexible and sensitive assembly error detection, a hierarchical scaffolding procedure and a reliable gap-closing method for haploid sub-assemblies. Using HM2, we demonstrate that two haploid sub-assemblies reconstructed from a real, highly-polymorphic diploid assembly show greatly improved continuity. AVAILABILITY AND IMPLEMENTATION: Source code, executables and the testing dataset are freely available at https://github.com/mapleforest/HaploMerger2/releases/. CONTACT: hshengf2@mail.sysu.edu.cn. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.