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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%...
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...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview

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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

Chapter 6: Structural variation and medical genomics.

Benjamin J Raphael1

  • 1Department of Computer Science and Center for Computational Molecular Biology, Brown University, Providence, Rhode Island, United States of America. braphael@brown.edu

Plos Computational Biology
|January 10, 2013
PubMed
Summary
This summary is machine-generated.

Structural variants (SVs) are large genomic alterations that significantly impact human and cancer genomes. Advances in high-throughput sequencing technologies have improved the detection and understanding of these crucial genetic variations.

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Area of Science:

  • Genomics
  • Cancer Genomics
  • Human Genetics

Background:

  • Human genomes exhibit variations from single nucleotide variants (SNVs) to large-scale structural variants (SVs).
  • Structural variants (SVs) represent a significant and previously underappreciated source of genomic variation.
  • Recent technological advancements have enhanced the study of SVs in human and cancer genomes.

Purpose of the Study:

  • To review and describe current genomic technologies for measuring structural variants (SVs).
  • To outline computational techniques employed for SV detection and analysis.
  • To highlight the applications of these methods in human and cancer genomics research.

Main Methods:

  • Utilizes microarray-based techniques for measuring genomic variations.
  • Employs high-throughput DNA sequencing for higher-resolution variant detection.
  • Integrates computational approaches for analyzing structural variants.

Main Results:

  • Higher-resolution technologies enable more accurate measurement of structural variants (SVs).
  • Increased attention on SVs reveals their importance in human and cancer genomics.
  • Current methods provide a comprehensive approach to studying genomic alterations.

Conclusions:

  • Genomic technologies and computational techniques are crucial for measuring structural variants (SVs).
  • Understanding SVs is vital for advancing human and cancer genomics.
  • Continued technological development will further improve the detection and interpretation of SVs.