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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%...
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Statistical Software for Data Analysis and Clinical Trials

Statistical software is pivotal in data analysis and clinical trials by providing tools to analyze data, draw conclusions, and make predictions. These software packages range from simple data management applications to complex analytical platforms, supporting various statistical tests, models, and simulation techniques. Their significance lies in their ability to handle vast amounts of data with precision and efficiency, enabling researchers to validate hypotheses, identify trends, and make...
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...
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.
DNA Microarrays02:34

DNA 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...

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Updated: Jun 11, 2026

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

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Published on: February 17, 2017

CNVineta: a data mining tool for large case-control copy number variation datasets.

Michael Wittig1, Ingo Helbig, Stefan Schreiber

  • 1Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel, Schittenhelmstrasse 12, 24105 Kiel, Germany. m.wittig@mucosa.de

Bioinformatics (Oxford, England)
|July 8, 2010
PubMed
Summary

CNVineta is a new R package that helps researchers analyze copy number variations (CNVs) in large genetic datasets. It improves the identification and visualization of CNVs, aiding in the interpretation of genetic variation data.

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Last Updated: Jun 11, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
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Published on: February 17, 2017

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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

Area of Science:

  • Genetics
  • Bioinformatics

Background:

  • Copy number variation (CNV) is a significant source of human genetic diversity, involving deletions and insertions of genomic regions.
  • Identifying CNVs from microarray data is challenging due to high false positive/negative rates from noisy data.

Purpose of the Study:

  • To introduce CNVineta, an R package for efficient analysis and visualization of CNVs in large genetic datasets.
  • To facilitate genome-wide association studies for both rare and common CNVs.
  • To enable visual quality inspection of raw data ratios and B-allele frequencies.

Main Methods:

  • CNVineta is an R package compatible with various CNV prediction algorithms.
  • It supports large case-control datasets genotyped with single nucleotide polymorphism oligonucleotide arrays.
  • The package allows rapid data mining and visualization, including display of log(2) ratios and B-allele frequencies.

Main Results:

  • CNVineta provides rapid data mining and visualization capabilities for CNVs.
  • It enhances the interpretation of large-scale CNV datasets.
  • The package aids in prioritizing regions for further experimental investigation.

Conclusions:

  • CNVineta improves the analysis and interpretation of copy number variation data.
  • It offers a valuable tool for researchers studying genetic variation and its impact.