Pairtools: From sequencing data to chromosome contacts

PLoS Comput Biol. 2024 May 29;20(5):e1012164. doi: 10.1371/journal.pcbi.1012164. eCollection 2024 May.

Abstract

The field of 3D genome organization produces large amounts of sequencing data from Hi-C and a rapidly-expanding set of other chromosome conformation protocols (3C+). Massive and heterogeneous 3C+ data require high-performance and flexible processing of sequenced reads into contact pairs. To meet these challenges, we present pairtools-a flexible suite of tools for contact extraction from sequencing data. Pairtools provides modular command-line interface (CLI) tools that can be flexibly chained into data processing pipelines. The core operations provided by pairtools are parsing of.sam alignments into Hi-C pairs, sorting and removal of PCR duplicates. In addition, pairtools provides auxiliary tools for building feature-rich 3C+ pipelines, including contact pair manipulation, filtration, and quality control. Benchmarking pairtools against popular 3C+ data pipelines shows advantages of pairtools for high-performance and flexible 3C+ analysis. Finally, pairtools provides protocol-specific tools for restriction-based protocols, haplotype-resolved contacts, and single-cell Hi-C. The combination of CLI tools and tight integration with Python data analysis libraries makes pairtools a versatile foundation for a broad range of 3C+ pipelines.

MeSH terms

  • Chromosome Mapping / methods
  • Chromosomes* / chemistry
  • Chromosomes* / genetics
  • Computational Biology* / methods
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Sequence Analysis, DNA / methods
  • Software*