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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%...
DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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Related Experiment Video

Updated: Jul 14, 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

Methods and strategies for analyzing copy number variation using DNA microarrays.

Nigel P Carter1

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK. npc@sanger.ac.uk

Nature Genetics
|September 5, 2007
PubMed
Summary

DNA copy-number variation (CNV) impacts gene function and disease. Recent studies reveal CNVs affect 12% of the genome, influencing human traits and evolution, necessitating advanced detection methods.

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Area of Science:

  • Genetics
  • Genomics
  • Human Evolution

Background:

  • DNA copy-number variation (CNV) is linked to gene function and human disease.
  • The full extent and prevalence of CNVs have only recently been understood.
  • CNVs are increasingly recognized as significant contributors to normal phenotypic variation.

Purpose of the Study:

  • To highlight the broad impact of DNA copy-number variation on the human genome.
  • To emphasize the need for advanced methods to detect and catalog CNVs.
  • To underscore the importance of associating CNVs with biological functions, evolution, and diseases.

Main Methods:

  • Utilizing microarray technology for high-resolution detection of genomic variations.
  • Cataloging copy-number variations across human populations.
  • Analyzing the association between CNVs and various biological and disease-related factors.

Main Results:

  • Microarray studies indicate that up to 12% of the human genome exhibits copy-number variation.
  • Thousands of genes are affected by copy-number variation.
  • This genomic diversity is a likely source of significant normal phenotypic variation.

Conclusions:

  • DNA copy-number variation is a widespread and crucial aspect of human genetic diversity.
  • Developing high-resolution detection and cataloging methods for CNVs is essential.
  • Further research is needed to link CNVs to function, evolution, and complex diseases.