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scAbsolute: measuring single-cell ploidy and replication status

  • Michael P. Schneider,
  • Amy E. Cullen,
  • Justina Pangonyte,
  • Jason Skelton,
  • Harvey Major,
  • Elke Van Oudenhove,
  • Maria J. Garcia,
  • Blas Chaves Urbano,
  • Anna M. Piskorz,
  • James D. Brenton,
  • Geoff Macintyre,
  • Florian Markowetz

摘要

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.