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Updated: Jul 10, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
SiDCoN: a tool to aid scoring of DNA copy number changes in SNP chip data
Derek J Nancarrow1, Herlina Y Handoko, Mitchell S Stark
1Oncogenomics, Queensland Institute of Medical Research, Herston, Queensland, Australia. derekN@qimr.edu.au
Abstract:
The recent application of genome-wide, single nucleotide polymorphism (SNP) microarrays to investigate DNA copy number aberrations in cancer has provided unparalleled sensitivity for identifying genomic changes. In some instances the complexity of these changes makes them difficult to interpret, particularly when tumour samples are contaminated with normal (stromal) tissue. Current automated scoring algorithms require considerable manual data checking and correction, especially when assessing uncultured tumour specimens. To address these limitations we have developed a visual tool to aid in the analysis of DNA copy number data. Simulated DNA Copy Number (SiDCoN) is a spreadsheet-based application designed to simulate the appearance of B-allele and logR plots for all known types of tumour DNA copy number changes, in the presence or absence of stromal contamination. The system allows the user to determine the level of stromal contamination, as well as specify up to 3 different DNA copy number aberrations for up to 5000 data points (representing individual SNPs). This allows users great flexibility to assess simple or complex DNA copy number combinations. We demonstrate how this utility can be used to estimate the level of stromal contamination within tumour samples and its application in deciphering the complex heterogeneous copy number changes we have observed in a series of tumours. We believe this tool will prove useful to others working in the area, both as a training tool, and to aid in the interpretation of complex copy number changes.
Insights
Interpreting cancer DNA copy number changes is challenging due to normal tissue contamination. We developed Simulated DNA Copy Number (SiDCoN), a visual tool to accurately analyze these complex genomic alterations.
Area of Science:
- Genomics
- Cancer Research
- Bioinformatics
Background:
- Genome-wide SNP microarrays offer sensitive detection of cancer DNA copy number aberrations.
- Interpreting these genomic changes is complex, especially with stromal contamination in tumor samples.
- Existing automated scoring algorithms require significant manual correction for uncultured specimens.
Purpose of the Study:
- To develop a visual tool, Simulated DNA Copy Number (SiDCoN), to aid in the analysis of DNA copy number data.
- To address limitations in interpreting complex genomic changes and stromal contamination in tumor samples.
- To provide a flexible application for simulating and analyzing DNA copy number alterations.
Main Methods:
- Developed SiDCoN, a spreadsheet-based application for simulating B-allele and logR plots.
- The tool simulates all known tumor DNA copy number changes with or without stromal contamination.
- Users can specify stromal contamination levels, up to 3 DNA copy number aberrations, and analyze up to 5000 data points (SNPs).
Main Results:
- SiDCoN accurately simulates various DNA copy number changes and stromal contamination effects.
- The tool enables estimation of stromal contamination levels in tumor samples.
- Demonstrated application in deciphering complex, heterogeneous copy number changes observed in tumor series.
Conclusions:
- SiDCoN is a valuable visual tool for analyzing DNA copy number data in cancer research.
- The application aids in estimating stromal contamination and interpreting complex genomic alterations.
- SiDCoN serves as both a training resource and an analytical aid for researchers studying DNA copy number changes.
Related Concept Videos
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs

