CNAsim: improved simulation of single-cell copy number profiles and DNA-seq data from tumors

Bioinformatics. 2023 Jul 1;39(7):btad434. doi: 10.1093/bioinformatics/btad434.

Abstract

Summary: CNAsim is a software package for improved simulation of single-cell copy number alteration (CNA) data from tumors. CNAsim can be used to efficiently generate single-cell copy number profiles for thousands of simulated tumor cells under a more realistic error model and a broader range of possible CNA mechanisms compared with existing simulators. The error model implemented in CNAsim accounts for the specific biases of single-cell sequencing that leads to read count fluctuation and poor resolution of CNA detection. For improved realism over existing simulators, CNAsim can (i) generate WGD, whole-chromosomal CNAs, and chromosome-arm CNAs, (ii) simulate subclonal population structure defined by the accumulation of chromosomal CNAs, and (iii) dilute the sampled cell population with both normal diploid cells and pseudo-diploid cells. The software can also generate DNA-seq data for sampled cells.

Availability and implementation: CNAsim is written in Python and is freely available open-source from https://github.com/samsonweiner/CNAsim.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Computer Simulation
  • DNA
  • DNA Copy Number Variations*
  • Humans
  • Neoplasms* / genetics
  • Software

Substances

  • DNA