scAbsolute: measuring single-cell ploidy and replication status

Genome Biol. 2024 Mar 4;25(1):62. doi: 10.1186/s13059-024-03204-y.

Abstract

Cancer cells often exhibit DNA copy number aberrations and can vary widely in their ploidy. Correct estimation of the ploidy of single-cell genomes is paramount for downstream analysis. Based only on single-cell DNA sequencing information, scAbsolute achieves accurate and unbiased measurement of single-cell ploidy and replication status, including whole-genome duplications. We demonstrate scAbsolute's capabilities using experimental cell multiplets, a FUCCI cell cycle expression system, and a benchmark against state-of-the-art methods. scAbsolute provides a robust foundation for single-cell DNA sequencing analysis across different technologies and has the potential to enable improvements in a number of downstream analyses.

Keywords: Cell cycle stage; Ploidy estimation; Singe-cell genomics; Single-cell DNA sequencing; Whole-genome doubling; Whole-genome duplication.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Benchmarking*
  • Cell Cycle / genetics
  • Cell Division
  • Ploidies*
  • Sequence Analysis, DNA