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

Michael J RoachSimon A SchmidtAnthony R Borneman
Published in: BMC bioinformatics (2018)
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_haplotigs under a permissive MIT licence.
Keyphrases
  • healthcare
  • primary care
  • genome wide
  • working memory
  • high frequency
  • single cell
  • quality improvement
  • data analysis