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Related Concept Videos

Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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%...
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...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Next-generation Sequencing03:00

Next-generation Sequencing

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.
Genome-wide Association Studies-GWAS01:11

Genome-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...

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Related Experiment Video

Updated: May 22, 2026

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

Genovar: a detection and visualization tool for genomic variants.

Kwang Su Jung1, Sanghoon Moon, Young Jin Kim

  • 1Division of Bio-Medical Informatics, Center for Genome Science, Korea National Institute of Health, Osong, 363-951, Korea.

BMC Bioinformatics
|May 19, 2012
PubMed
Summary

Genovar is a new program that helps researchers detect copy number variations (CNVs) and visualize genomic data. It reduces false positive CNV results by allowing manual exclusion of erroneous signals.

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A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes
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Last Updated: May 22, 2026

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

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Published on: August 15, 2019

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes
09:10

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

Area of Science:

  • Genomics
  • Bioinformatics

Background:

  • Copy number variation (CNV) is a key genetic factor in disease susceptibility, alongside single nucleotide polymorphisms (SNPs).
  • Existing CNV analysis tools struggle with false positives due to low resolution, platform specificity, and CNV type limitations.
  • Manual visual inspection is needed to differentiate true CNV signals from spurious ones, a feature lacking in current tools.

Purpose of the Study:

  • To develop a program for efficient detection and visualization of CNV regions.
  • To enable manual exclusion of erroneous signals for improved accuracy.
  • To facilitate simultaneous visualization of array comparative genomic hybridization (aCGH) and sequence alignment data.

Main Methods:

  • Developed Genovar, a JAVA-based stand-alone program.
  • Integrated comparison with the Database of Genomic Variants (DGV) and Single Nucleotide Polymorphism Database (dbSNP) to identify novel variants.
  • Enabled visualization of genomic data from aCGH and sequence alignment files.

Main Results:

  • Genovar facilitates the detection and visualization of CNV regions.
  • The program allows comparison with established databases (DGV, dbSNP) for variant novelty assessment.
  • Genovar supports visualization of both aCGH and sequence alignment data.

Conclusions:

  • Genovar offers a user-friendly graphic user interface (GUI) for CNV detection.
  • Provides comprehensive information aiding visual inspection to eliminate spurious signals.
  • Valuable tool for reducing false positive CNV results in genetic research.