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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%...
Single Nucleotide Polymorphisms-SNPs01:05

Single 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,...
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.
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Copy number variation.

Louise V Wain1, Martin D Tobin

  • 1Department of Health Sciences, University of Leicester, Leicester, UK. lvw1@le.ac.uk

Methods in Molecular Biology (Clifton, N.J.)
|December 15, 2010
PubMed
Summary
This summary is machine-generated.

Copy number variation (CNV) is a widespread genomic variation impacting human health. CNV genome-wide association studies offer new insights into disease, despite unique research challenges.

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Area of Science:

  • Genetic Epidemiology
  • Genomics
  • Human Genetics

Background:

  • Genome-wide association (GWA) studies using single nucleotide polymorphisms (SNPs) dominate genetic epidemiology.
  • Copy number variation (CNV) is a widespread structural genomic variation, highly polymorphic in humans.
  • Previous candidate gene studies demonstrated CNV's impact on human health.

Purpose of the Study:

  • To characterize copy number variation (CNV) on a genome-wide scale.
  • To identify associations between CNV and human diseases.
  • To address the unique challenges and considerations in CNV GWA studies.

Main Methods:

  • Utilizing new microarray-based technologies for accurate CNV mapping.
  • Refining genome-wide CNV maps with increasing resolution.
  • Applying GWA study designs adapted for CNV analysis.

Main Results:

  • CNV is a significant source of human genomic variation with health implications.
  • Genome-wide CNV characterization is advancing rapidly.
  • Associations between CNV and disease are increasingly being identified.

Conclusions:

  • CNV represents a dynamic and crucial area of research in genetic epidemiology.
  • Advanced technologies are improving the study of CNV.
  • Understanding CNV's role in health and disease is an ongoing challenge.