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Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Targeted screening and validation of copy number variations
Shana Ceulemans1, Karlijn van der Ven, Jurgen Del-Favero
1Applied Molecular Genomics Unit, VIB, Department of Molecular Genetics, Flanders, Belgium.
Methods in Molecular Biology (Clifton, N.J.)
|January 10, 2012
Summary
Copy number variations (CNVs) are abundant in the human genome and influence disease susceptibility. This study reviews targeted CNV screening and validation techniques, highlighting their strengths and weaknesses.
Area of Science:
- Genetics
- Genomics
- Molecular Biology
Background:
- Genome-wide screening technologies have revealed the abundance of copy number variations (CNVs) in the human genome.
- CNVs contribute significantly to genetic variation alongside SNPs and other structural variants.
- CNVs can impact gene dosage, influencing disease susceptibility, manifestation, and severity.
Purpose of the Study:
- To describe available techniques for targeted screening and validation of CNVs.
- To provide an overview of CNV analysis methods, including their advantages and limitations.
Main Methods:
- Fluorescence in situ hybridization (FISH)
- Quantitative real-time PCR (qPCR)
- Paralogue ratio test (PRT)
- Molecular copy-number counting (MCC)
- Multiplex PCR-based approaches (MAPH, MLPA, mPCR-RETINA, QMPSF, MAQ)
Main Results:
- The chapter details various targeted CNV screening and validation methodologies.
- Each method's strengths and weaknesses are discussed.
Conclusions:
- CNV analysis methodologies are actively progressing, particularly for disease-related CNVs.
- The chapter provides a comprehensive overview to guide the selection of appropriate CNV detection techniques.
