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Related Concept Videos

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...
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%...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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,...
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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Updated: May 26, 2026

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

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

Published on: April 4, 2018

Online resources for genomic structural variation.

Tam P Sneddon1, Deanna M Church

  • 1NCBI, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.

Methods in Molecular Biology (Clifton, N.J.)
|January 10, 2012
PubMed
Summary
This summary is machine-generated.

Genomic structural variations (SVs) range from small insertions/deletions to large chromosomal rearrangements. Databases like dbVar and DGVa are crucial for collecting and analyzing this vital genetic data.

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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:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Genomic structural variation (SV) encompasses a wide spectrum of DNA alterations, from single base pair insertions/deletions (INDELs) to megabase-scale rearrangements.
  • These variants can affect coding or noncoding regions, be inherited or sporadic, and range from common alleles to rare events.
  • SV impacts phenotypes, contributing to traits like immunity or causing genomic disorders such as DiGeorge syndrome.

Purpose of the Study:

  • To review current online resources for structural variation data.
  • To highlight challenges in capturing, storing, and displaying SV data.
  • To discuss the design of dbVar and DGVa for addressing these challenges.

Main Methods:

  • Literature review of existing structural variation databases.
  • Analysis of data management strategies for genomic variants.
  • Description of the dbVar and DGVa database architectures.

Main Results:

  • Identification of key online resources for SV data (Fig. 1, Table 1).
  • Discussion of technical and logistical hurdles in SV data handling.
  • Explanation of how dbVar and DGVa were developed to facilitate SV data access and analysis.

Conclusions:

  • Effective collation and accessibility of SV data are critical for research.
  • dbVar and DGVa represent significant advancements in managing and disseminating structural variation information.
  • Standardized databases are essential for understanding the role of SVs in health and disease.