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Related Concept Videos

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...
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%...

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Related Experiment Video

Updated: Jun 17, 2026

Serum and Plasma Copy Number Detection Using Real-time PCR
09:21

Serum and Plasma Copy Number Detection Using Real-time PCR

Published on: December 15, 2017

Accurate and objective copy number profiling using real-time quantitative PCR.

Barbara D'haene1, Jo Vandesompele, Jan Hellemans

  • 1Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

Methods (San Diego, Calif.)
|January 12, 2010
PubMed
Summary
This summary is machine-generated.

Quantitative PCR (qPCR) offers a cost-effective and rapid method for screening copy number changes in genetic disorders. This guide details implementing qPCR for reliable copy number analysis of disease genes.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Copy number changes are implicated in various human genetic disorders.
  • Quantitative PCR (qPCR) presents a sensitive, cost-effective, and rapid method for genetic analysis.

Purpose of the Study:

  • To provide comprehensive guidelines for implementing qPCR-based copy number analysis.
  • To highlight best practices for reliable screening of disease-related gene copy numbers.

Main Methods:

  • Detailed explanation of qPCR methodology for copy number variation (CNV) detection.
  • Emphasis on in silico and empirical validation of primers.
  • Guidance on experimental design and quality control protocols.

Main Results:

  • Successful implementation of qPCR for targeted copy number screening.
  • Demonstration of qPCR's advantages: low cost, speed, high sensitivity, and open format.
  • Practical approach for copy number calculation and result interpretation.

Conclusions:

  • qPCR is a powerful tool for copy number screening in genetic disorders.
  • Adherence to validation, experimental design, and quality control is crucial for reliable results.
  • The provided guidelines enhance the quality and dependability of qPCR-based copy number analysis.