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

Samson Weiner, Mukul S. Bansal

2023Bioinformatics12 citationsDOIOpen Access PDF

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.

Topics & Concepts

Computer scienceComputational biologyDNACopy-number variationRNA-SeqBiologyGeneticsGenomeGeneTranscriptomeGene expressionCancer Genomics and DiagnosticsSingle-cell and spatial transcriptomicsGenomic variations and chromosomal abnormalities
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