Related Experiment Video
Updated: Jul 19, 2026
09:16
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Detecting copy number variation in the human genome using comparative genomic hybridization
1Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Biotechniques
|October 31, 2006
Summary
Human genomes are highly similar, but genetic variation drives diversity. New technologies reveal extensive copy number variation, impacting disease susceptibility and environmental responses.
Area of Science:
- Genomics
- Human Genetics
- Molecular Biology
Background:
- Human genomes were once thought to be 99.9% identical.
- Genetic variation is crucial for phenotypic diversity.
- Advancements in genomic technologies offer higher resolution analyses.
Purpose of the Study:
- To highlight the significance of genetic variation in the human genome.
- To introduce copy number variation (CNV) as a key type of genetic diversity.
- To explore the implications of CNV on health and environmental interactions.
Main Methods:
- Utilizing array-based comparative genomic hybridization (CGH).
- Genome-wide analyses at high resolution.
- Identifying regions of variable copy number between individuals.
Main Results:
- Thousands of regions in the human genome exhibit copy number variation.
- CNV contributes significantly to human genetic diversity.
- CNV has been linked to predispositions for common diseases.
Conclusions:
- The human genome possesses greater variation than previously understood.
- Copy number variation influences disease susceptibility.
- CNV impacts individual responses to diet, medications, immunity, and the environment.
More Related Videos
Related Concept Videos
02:26Comparing 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%...
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%...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
02:34DNA 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...
02:46Genome 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.
01:17Karyotyping
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...