nPhase: an accurate and contiguous phasing method for polyploids

Genome Biol. 2021 Apr 29;22(1):126. doi: 10.1186/s13059-021-02342-x.

Abstract

While genome sequencing and assembly are now routine, we do not have a full, precise picture of polyploid genomes. No existing polyploid phasing method provides accurate and contiguous haplotype predictions. We developed nPhase, a ploidy agnostic tool that leverages long reads and accurate short reads to solve alignment-based phasing for samples of unspecified ploidy ( https://github.com/OmarOakheart/nPhase ). nPhase is validated by tests on simulated and real polyploids. nPhase obtains on average over 95% accuracy and a contiguous 1.25 haplotigs per haplotype to cover more than 90% of each chromosome (heterozygosity rate ≥ 0.5%). nPhase allows population genomics and hybrid studies of polyploids.

Keywords: Haplotype; Long-read sequencing; Phasing; Pipeline; Polyploid.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Computational Biology / methods*
  • Computational Biology / standards
  • Databases, Genetic
  • Genomics / methods*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Polyploidy*
  • Reproducibility of Results
  • Sequence Analysis, DNA
  • Software*
  • Workflow