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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%...

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Related Experiment Video

Updated: Jul 2, 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

Studying copy number variations using a nanofluidic platform.

Jian Qin1, Robert C Jones, Ramesh Ramakrishnan

  • 1Fluidigm Corporation, South San Francisco, CA 94080, USA.

Nucleic Acids Research
|August 20, 2008
PubMed
Summary
This summary is machine-generated.

A new digital array technology accurately measures gene copy numbers, detecting small differences previously missed by conventional methods. This advance is valuable for copy number variation (CNV) studies and cancer research.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Biotechnology

Background:

  • Copy number variations (CNVs) are crucial in human genome studies.
  • Existing methods like comparative genomic hybridization and SNP microarrays have limited resolution, typically detecting only twofold differences.
  • Quantitative PCR offers low throughput and limited resolution.

Purpose of the Study:

  • To introduce and evaluate a novel digital array technology for precise gene copy number quantification.
  • To demonstrate the technology's superior sensitivity in detecting subtle copy number changes.
  • To assess the clinical relevance of the digital array in cancer genomics.

Main Methods:

  • Development of a nanofluidic biochip platform (digital array) for gene quantitation.
  • Performance evaluation using a model system to determine sensitivity thresholds.
  • Analysis of commercial DNA samples for CYP2D6 copy number.
  • Screening of breast cancer and normal DNA samples for ERBB2 gene amplification.

Main Results:

  • The digital array technology can detect as little as a 15% difference in gene copy number.
  • Results for CYP2D6 copy numbers were consistent with conventional techniques.
  • ERBB2 gene amplification was identified in approximately 35% of analyzed breast cancer samples.

Conclusions:

  • The digital array offers highly accurate and sensitive measurement of gene copy numbers.
  • This technology significantly advances the study of copy number variations.
  • The digital array has substantial value for genomic research, particularly in cancer diagnostics and biomarker discovery.