» Articles » PMID: 37449891

CNAsim: Improved Simulation of Single-cell Copy Number Profiles and DNA-seq Data from Tumors

Overview
Journal Bioinformatics
Specialty Biology
Date 2023 Jul 14
PMID 37449891
Authors
Affiliations
Soon will be listed here.
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.

Citing Articles

DICE: fast and accurate distance-based reconstruction of single-cell copy number phylogenies.

Weiner S, Bansal M Life Sci Alliance. 2024; 8(3).

PMID: 39667913 PMC: 11638338. DOI: 10.26508/lsa.202402923.


Improved allele-specific single-cell copy number estimation in low-coverage DNA-sequencing.

Weiner S, Li B, Nabavi S Bioinformatics. 2024; 40(8).

PMID: 39133157 PMC: 11346770. DOI: 10.1093/bioinformatics/btae506.


Assessing the merits: an opinion on the effectiveness of simulation techniques in tumor subclonal reconstruction.

Lai J, Yang Y, Liu Y, Scharpf R, Karchin R Bioinform Adv. 2024; 4(1):vbae094.

PMID: 38948008 PMC: 11213631. DOI: 10.1093/bioadv/vbae094.


Evaluation of simulation methods for tumor subclonal reconstruction.

Lai J, Liu Y, Scharpf R, Karchin R ArXiv. 2024; .

PMID: 38410652 PMC: 10896360.

References
1.
Minussi D, Nicholson M, Ye H, Davis A, Wang K, Baker T . Breast tumours maintain a reservoir of subclonal diversity during expansion. Nature. 2021; 592(7853):302-308. PMC: 8049101. DOI: 10.1038/s41586-021-03357-x. View

2.
Yu Z, Du F, Sun X, Li A . SCSsim: an integrated tool for simulating single-cell genome sequencing data. Bioinformatics. 2019; 36(4):1281-1282. PMC: 7703785. DOI: 10.1093/bioinformatics/btz713. View

3.
Gao Y, Ni X, Guo H, Su Z, Ba Y, Tong Z . Single-cell sequencing deciphers a convergent evolution of copy number alterations from primary to circulating tumor cells. Genome Res. 2017; 27(8):1312-1322. PMC: 5538548. DOI: 10.1101/gr.216788.116. View

4.
Baumdicker F, Bisschop G, Goldstein D, Gower G, Ragsdale A, Tsambos G . Efficient ancestry and mutation simulation with msprime 1.0. Genetics. 2021; 220(3). PMC: 9176297. DOI: 10.1093/genetics/iyab229. View

5.
Feng X, Chen L . SCSilicon: a tool for synthetic single-cell DNA sequencing data generation. BMC Genomics. 2022; 23(Suppl 4):359. PMC: 9092674. DOI: 10.1186/s12864-022-08566-w. View