Purge Haplotigs: Allelic contig reassignment for third-gen diploid genome assemblies

Michael J. Roach, Simon A. Schmidt, Anthony R. Borneman

Research output: Contribution to journalArticlepeer-review

111 Citations (Scopus)
4 Downloads (Pure)

Abstract

Background: Recent developments in third-gen long read sequencing and diploid-aware assemblers have resulted in the rapid release of numerous reference-quality assemblies for diploid genomes. However, assembly of highly heterozygous genomes is still problematic when regional heterogeneity is so high that haplotype homology is not recognised during assembly. This results in regional duplication rather than consolidation into allelic variants and can cause issues with downstream analysis, for example variant discovery, or haplotype reconstruction using the diploid assembly with unpaired allelic contigs. Results: A new pipeline-Purge Haplotigs-was developed specifically for third-gen sequencing-based assemblies to automate the reassignment of allelic contigs, and to assist in the manual curation of genome assemblies. The pipeline uses a draft haplotype-fused assembly or a diploid assembly, read alignments, and repeat annotations to identify allelic variants in the primary assembly. The pipeline was tested on a simulated dataset and on four recent diploid (phased) de novo assemblies from third-generation long-read sequencing, and compared with a similar tool. After processing with Purge Haplotigs, haploid assemblies were less duplicated with minimal impact on genome completeness, and diploid assemblies had more pairings of allelic contigs. Conclusions: Purge Haplotigs improves the haploid and diploid representations of third-gen sequencing based genome assemblies by identifying and reassigning allelic contigs. The implementation is fast and scales well with large genomes, and it is less likely to over-purge repetitive or paralogous elements compared to alignment-only based methods. The software is available at https://bitbucket.org/mroachawri/purge_haplotigsunder a permissive MIT licence.

Original languageEnglish
Article number460
Number of pages10
JournalBMC Bioinformatics
Volume19
DOIs
Publication statusPublished - 29 Nov 2018
Externally publishedYes

Keywords

  • Polymorphic genome
  • Redundant contigs
  • Synteny reduction

Fingerprint Dive into the research topics of 'Purge Haplotigs: Allelic contig reassignment for third-gen diploid genome assemblies'. Together they form a unique fingerprint.

Cite this