Related Experiment Video
Updated: Oct 2, 2025
09:45
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
11.8K
Identification of Copy Number Alterations from Next-Generation Sequencing Data
1Computer Science and Engineering, Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA. Sheida.nabavi@uconn.edu.
Advances in Experimental Medicine and Biology
|March 1, 2022
Summary
Copy number variations (CNVs) are genomic alterations linked to cancer. Advanced sequencing and computational methods enable accurate detection of these somatic aberrations, aiding precision oncology.
Area of Science:
- Genomics
- Cancer Biology
- Bioinformatics
Background:
- Copy number variation (CNV) involves genome segment deletion or multiplication.
- CNVs are significant genomic alterations associated with diseases, particularly cancer.
- Somatic CNVs are key aberrations in cancer evolution.
Purpose of the Study:
- To introduce copy number variations (CNVs).
- To discuss computational methods for detecting somatic CNVs using next-generation sequencing data.
- To highlight challenges and workflows in CNV detection.
Main Methods:
- Leveraging next-generation sequencing data (whole-genome, whole-exome, targeted).
- Employing various computational algorithms for somatic CNV detection.
- Analyzing sequencing data complexity, noise, and biases.
Main Results:
- Advances in sequencing technologies improve CNV detection accuracy and resolution.
- Computational detection has identified actionable cancer-specific CNVs.
- Progress in precision oncology is driven by CNV discoveries.
Conclusions:
- Somatic CNV detection is crucial for understanding cancer evolution.
- Computational tools are essential for analyzing complex sequencing data.
- Accurate CNV detection guides targeted cancer therapeutics and precision oncology.
Keywords:
CNV detectionCopy number variationWhole genome sequencing, Somatic aberrationsWhole-exome sequencingMore Related Videos
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
18.0K
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%...
18.0K
03:00Next-generation Sequencing
93.3K
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....
93.3K