Haplotype-resolved assembly of diploid genomes without parental data

Nat Biotechnol. 2022 Sep;40(9):1332-1335. doi: 10.1038/s41587-022-01261-x. Epub 2022 Mar 24.

Abstract

Routine haplotype-resolved genome assembly from single samples remains an unresolved problem. Here we describe an algorithm that combines PacBio HiFi reads and Hi-C chromatin interaction data to produce a haplotype-resolved assembly without the sequencing of parents. Applied to human and other vertebrate samples, our algorithm consistently outperforms existing single-sample assembly pipelines and generates assemblies of similar quality to the best pedigree-based assemblies.

Publication types

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

MeSH terms

  • Diploidy*
  • Genome*
  • Haplotypes / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Parents
  • Sequence Analysis, DNA