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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

11.5K
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%...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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,...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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...
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Genetic Variation01:25

Genetic Variation

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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,...
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Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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Related Experiment Video

Updated: Apr 28, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
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Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

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CNV-Hub: an integrated web-based platform for CNV classification and interpretation using multi-algorithm consensus.

Vignesh Guru Victor Pillay1, Anne-Laure Mosca1, Davide Callegarin1

  • 1Department of Chromosomal and Molecular Genetics, Dijon University Hospital, Dijon, 21000, France.

NAR Genomics and Bioinformatics
|April 27, 2026
PubMed
Summary
This summary is machine-generated.

Copy number variations (CNVs) can cause genetic diseases. CNV-Hub is a new platform that simplifies CNV analysis, integrating multiple algorithms for faster and more accurate interpretation of these genomic alterations.

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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Related Experiment Videos

Last Updated: Apr 28, 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

12.6K
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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Area of Science:

  • Genomic Medicine
  • Molecular Cytogenetics
  • Bioinformatics

Background:

  • Copy number variations (CNVs) are significant causes of rare genetic diseases.
  • Interpreting CNVs involves complex analysis of gene content, regulatory elements, and syndrome associations, often requiring consultation of multiple databases and guidelines.
  • Existing interpretation methods are time-consuming and require specialized expertise.

Purpose of the Study:

  • To develop a streamlined, web-based platform, CNV-Hub, for efficient and accurate classification and interpretation of CNVs.
  • To integrate diverse analytical approaches, including established guidelines and machine learning, into a single tool.
  • To reduce the time and complexity associated with CNV analysis in clinical settings.

Main Methods:

  • Development of CNV-Hub, a web-based platform integrating five CNV analysis algorithms.
  • Inclusion of algorithms based on American College of Medical Genetics (ACMG) recommendations (AnnotSV, ClassifyCNV).
  • Integration of machine learning algorithms (X-CNV, ISV) and a custom algorithm based on French guidelines.
  • Provision of automated pathogenicity predictions, gene dosage sensitivity scores (pHaplo, pTriplo), syndrome associations, and links to external databases (OMIM, PubMed).

Main Results:

  • CNV-Hub provides automated pathogenicity predictions and comprehensive annotations for CNVs.
  • The platform integrates multiple algorithms, including machine learning, to enhance the interpretation of uncertain variants.
  • User-friendly interface facilitates rapid, evidence-based evaluation of CNVs.

Conclusions:

  • CNV-Hub significantly reduces the time required for CNV analysis while maintaining accuracy and reliability.
  • The platform supports geneticists in clinical decision-making by providing a comprehensive and efficient tool for CNV interpretation.
  • CNV-Hub represents a substantial advancement in molecular cytogenetics, improving the diagnostic yield for rare genetic diseases caused by CNVs.