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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,...
General Transcription Factors01:30

General Transcription Factors

Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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...
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...

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Updated: Jun 25, 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

Segmental copy number variation shapes tissue transcriptomes.

Charlotte N Henrichsen1, Nicolas Vinckenbosch, Sebastian Zöllner

  • 1The Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.

Nature Genetics
|March 10, 2009
PubMed
Summary
This summary is machine-generated.

Copy number variations (CNVs) impact gene expression across tissues. This study maps CNVs in mice, revealing they alter gene expression globally and are more tightly regulated in brain-expressed genes.

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Last Updated: Jun 25, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

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Published on: February 17, 2017

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level
06:02

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10:12

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Published on: January 10, 2019

Area of Science:

  • Genomics
  • Transcriptomics
  • Population Genetics

Background:

  • Copy number variation (CNV) contributes to genetic diversity.
  • The phenotypic consequences of CNVs are not fully understood.
  • A comprehensive CNV map is needed for model organisms.

Purpose of the Study:

  • To generate a CNV map in wild and inbred mouse strains.
  • To investigate the impact of CNVs on gene expression.
  • To understand tissue-specific regulation of CNVs.

Main Methods:

  • Generation of a mouse CNV map.
  • Genome-wide expression profiling across six major organs.
  • Analysis of gene expression correlation with copy number and proximity.

Main Results:

  • CNVs correlate with altered expression of genes within them and in neighboring regions up to 500kb.
  • Genes within CNVs exhibit lower and more specific spatial expression.
  • Dosage alterations of brain-expressed genes are less frequent and more tightly regulated.

Conclusions:

  • CNVs significantly shape tissue transcriptomes on a global scale.
  • Differential regulatory constraints exist for CNVs affecting genes in different tissues.
  • CNVs represent a substantial source of phenotypic variation.