Related Experiment Video
Updated: Jun 7, 2026
09:16
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Genome-wide Mapping of Copy Number Variations Using SNP Arrays
Daniel Nowak1, Wolf-Karsten Hofmann, H Phillip Koeffler
1Division of Hematology and Oncology, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, USA.
Summary
High-density single nucleotide polymorphism (SNP) arrays offer advanced genomic analysis for disease research. These powerful tools detect various genomic abnormalities and are poised for future diagnostic use.
Area of Science:
- Genomics
- Molecular Biology
- Medical Genetics
Background:
- High-density single nucleotide polymorphism (SNP) microarrays have revolutionized genomic abnormality analysis.
- SNP arrays provide high resolution for detecting copy number variations, loss of heterozygosity, and uniparental disomy.
Purpose of the Study:
- To review the technical principles of SNP array technology.
- To highlight the utilization of SNP arrays in detecting submicroscopic genomic and polymorphic markers associated with disease.
Main Methods:
- Review of scientific literature on SNP array technology.
- Discussion of SNP array applications in disease research and diagnostics.
Main Results:
- SNP arrays offer significant advantages over traditional cytogenetic and molecular methods.
- SNP arrays have facilitated major discoveries in disease research, particularly in cancer genomics.
- The review emphasizes the potential of SNP arrays for routine diagnostic applications.
Conclusions:
- SNP array technology is a robust and high-resolution platform for comprehensive genomic analysis.
- Its application extends from experimental research to potential integration into clinical diagnostics.
- SNP arrays are crucial for identifying genomic markers linked to various diseases.
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,...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
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.