How do you do copy number analysis? Copy number analysis usually refers to the process of analyzing data produced by a test for DNA copy number variation in patient’s sample. Such analysis helps detect chromosomal
How do you do copy number analysis?
Copy number analysis usually refers to the process of analyzing data produced by a test for DNA copy number variation in patient’s sample. Such analysis helps detect chromosomal copy number variation that may cause or may increase risks of various critical disorders.
What is copy number polymorphism?
Copy number polymorphism: Abbreviated CNP. A normal variation in DNA due to variation in the number of copies of a sequence within the DNA. Large-scale copy number polymorphisms are common and widely distributed in the human genome.
What is copy number variation in cancer?
Cancer is a heterogeneous disease with many genetic variations. Lines of evidence have shown copy number variations (CNVs) of certain genes are involved in development and progression of many cancers through the alterations of their gene expression levels on individual or several cancer types.
What is a copy number assay?
TaqMan copy number assays are designed to detect and measure copy number variation in the human genome using real-time polymerase chain reaction and unquenching of fluorescent probes for the target sequence.
How is copy number analysis used in resequencing?
CONTRA: copy number analysis for targeted resequencing We present a method for CNV detection for TR data, including whole-exome capture data. Our method calls copy number gains and losses for each target region based on normalized depth of coverage.
Why is CNV analysis used in targeted resequencing?
Motivation: In light of the increasing adoption of targeted resequencing (TR) as a cost-effective strategy to identify disease-causing variants, a robust method for copy number variation (CNV) analysis is needed to maximize the value of this promising technology.
Which is the software used for copy number analysis?
Our methods are made available via CONTRA (COpy Number Targeted Resequencing Analysis), a software package that takes standard alignment formats (BAM/SAM) and outputs in variant call format (VCF4.0), for easy integration with other next-generation sequencing analysis packages.
When to use copy number analysis in bioinformatics?
CONTRA: copy number analysis for targeted resequencing Bioinformatics. 2012 May 15;28(10):1307-13.doi: 10.1093/bioinformatics/bts146. Epub 2012 Apr 2. Authors