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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing 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%...
Real Time RT-PCR02:57

Real Time RT-PCR

Real-time reverse transcription-polymerase chain reaction, or Real-time RT-PCR, is an analytical tool used to determine the expression level of target genes. The method involves converting mRNA to complementary DNA with the help of an enzyme known as reverse transcriptase, followed by the PCR amplification of the cDNA. These two processes can be performed simultaneously in a single tube or separately as a two-step reaction.
The real-time quantification of the number of amplified products is...

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Related Experiment Video

Updated: Jun 8, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

CNV analysis using TaqMan copy number assays.

Ping Mayo1, Toinette Hartshorne, Kelly Li

  • 1Center for Human Genetic Research, Vanderbilt University, Nashville, Tennessee, USA.

Current Protocols in Human Genetics
|October 5, 2010
PubMed
Summary
This summary is machine-generated.

Copy number variations (CNVs) significantly impact gene expression and are linked to diseases like cancer. TaqMan assays offer a precise method for detecting and quantifying these genomic alterations using real-time PCR.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Genomics

Background:

  • Copy number variations (CNVs) are significant genetic polymorphisms.
  • CNVs can alter gene expression levels, leading to higher or lower transcription than single-copy controls.
  • CNVs have been implicated in various genetic diseases, including cancer, immune disorders, and neurological conditions.

Purpose of the Study:

  • To introduce and describe TaqMan copy number assays.
  • To highlight the utility of these assays in detecting and measuring CNVs in the human genome.

Main Methods:

  • Utilizes real-time polymerase chain reaction (PCR).
  • Employs the principle of unquenching of fluorescent probes for target sequence detection.
  • Designed for quantitative measurement of copy number variations.

Main Results:

  • TaqMan assays provide a reliable method for detecting copy number variations.
  • The technology enables accurate quantification of gene copy number changes.
  • Demonstrates the application of real-time PCR in CNV analysis.

Conclusions:

  • TaqMan copy number assays are effective tools for analyzing genomic CNVs.
  • This technology aids in understanding the role of CNVs in genetic diseases.
  • Real-time PCR-based assays are valuable for genetic research and diagnostics.