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Updated: Aug 4, 2026
09:45
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
The algorithm of equal acceptance region for detecting copy number alterations: applications to next-generation
1School of Mathematics and Applied Statistics, University of Wollongong, Wollongong, Australia. yanxia@uow.edu.au
International Journal of Bioinformatics Research and Applications
|September 11, 2012
Summary
Determining optimal sequencing depth for copy number analysis is crucial for cancer gene discovery. This study introduces an algorithm to identify the necessary sequencing data depth, balancing accuracy and cost.
Area of Science:
- Genomics
- Bioinformatics
- Cancer Research
Background:
- Copy number alterations in tumor genomes are vital for identifying cancer-driving genes.
- Accurate copy number estimation relies on sequencing data depth, but higher depth increases analysis costs.
Purpose of the Study:
- To develop a method for determining the required sequencing data depth for copy number analysis prior to data generation.
- To optimize the balance between accuracy and cost in copy number analysis.
Main Methods:
- Proposed an algorithm based on equal acceptance regions for detecting copy number ratios.
- The algorithm aims to identify the necessary sequencing depth for reliable copy number analysis.
Main Results:
- The developed algorithm can effectively determine the required sequencing data depth.
- This method aids in efficient and cost-effective copy number analysis.
Conclusions:
- The algorithm provides a valuable tool for researchers to pre-determine optimal sequencing depths.
- This facilitates more efficient and cost-effective cancer gene discovery through copy number alteration analysis.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
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%...
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%...
03:00Next-generation Sequencing
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.