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Updated: May 17, 2026
09:45
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
HD-CNV: hotspot detector for copy number variants.
Jenna L Butler1, Marjorie Elizabeth Osborne Locke, Kathleen A Hill
1Department of Computer Science, The University of Western Ontario, London, ON, Canada N6A 3K7. jcamer7@uwo.ca
Bioinformatics (Oxford, England)
|November 7, 2012
Summary
HD-CNV identifies recurrent copy number variant (CNV) regions across multiple samples. This tool aids in understanding genetic variation by analyzing CNV data and generating graphical representations for further genomic study.
Area of Science:
- Genomics
- Bioinformatics
- Computational Biology
Background:
- Copy number variants (CNVs) represent a significant source of genetic variation.
- Comparing CNVs across samples is crucial for understanding their biological impact.
Purpose of the Study:
- To introduce HD-CNV, a novel tool for the downstream analysis of copy number variant regions.
- To detect recurrent CNV regions from multiple samples.
Main Methods:
- HD-CNV analyzes previously identified CNV regions from multiple samples.
- It constructs an interval graph and identifies recurrent regions by finding cliques.
- The tool generates graphical representations, summary spreadsheets, and UCSC Genome Browser track files.
Main Results:
- HD-CNV effectively detects recurrent copy number variant regions.
- The generated interval graph facilitates the identification of genomic regions of interest.
- The software provides comprehensive data visualization and summary outputs.
Conclusions:
- HD-CNV is a valuable open-source tool for analyzing and visualizing copy number variants.
- Its outputs aid researchers in pinpointing genomic regions for further investigation.
- The tool enhances the study of genetic variation and its implications.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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%...
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