Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

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%...
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...
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...
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,...
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...
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Rapid adaptive increase of amylase gene copy number in Indigenous Andeans.

Nature communications·2026
Same author

LCPAN: efficient variation graph construction using locally consistent parsing.

Genome biology·2026
Same author

GenCore: Genomic distance estimation using Locally Consistent Parsing.

bioRxiv : the preprint server for biology·2026
Same author

LCPan: efficient variation graph construction using Locally Consistent Parsing.

ArXiv·2025
Same author

Robust software development practices improve citations of RNA-seq tools.

bioRxiv : the preprint server for biology·2025
Same author

Population-level gene copy number variations reveal distinct genetic properties of different Malus species.

BMC genomics·2025
Same journal

Genetic origins and constraints of evolutionary innovation.

Nature reviews. Genetics·2026
Same journal

Single-cell four-omics with CHARM.

Nature reviews. Genetics·2026
Same journal

Molecular integration of seasonal temperature signals in flowering time control.

Nature reviews. Genetics·2026
Same journal

RBPscan measures protein-RNA interactions in living cells.

Nature reviews. Genetics·2026
Same journal

Revisiting retinal and macular degeneration in the genomics era.

Nature reviews. Genetics·2026
Same journal

How evolution builds three morphs from one genome.

Nature reviews. Genetics·2026
See all related articles

Related Experiment Video

Updated: Jun 4, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Genome structural variation discovery and genotyping.

Can Alkan1, Bradley P Coe, Evan E Eichler

  • 1Department of Genome Sciences, University of Washington School of Medicine, Foege S413C, 3720 15th Ave NE, Seattle, Washington, USA.

Nature Reviews. Genetics
|March 2, 2011
PubMed
Summary
This summary is machine-generated.

Structural variations, including copy number variations, alter more human genome base pairs than point mutations. Advances in sequencing and computational methods improve discovery, but de novo genome assembly is key for comprehensive assessment.

More Related Videos

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

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Related Experiment Videos

Last Updated: Jun 4, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

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

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Area of Science:

  • Genomics
  • Human Genetics
  • Bioinformatics

Background:

  • Structural variations (SVs) significantly contribute to human genome diversity.
  • SVs, including copy number variations (CNVs), impact more base pairs than point mutations.
  • Accurate characterization of SVs is crucial for understanding genetic diseases and evolution.

Purpose of the Study:

  • To review recent advances in the discovery and genotyping of structural variation in the human genome.
  • To highlight challenges and discuss future directions in SV research.
  • To emphasize the importance of de novo genome assembly for comprehensive SV assessment.

Main Methods:

  • Integration of microarray-based and massively parallel sequencing (MPS) methods.
  • Application of advanced computational approaches for data analysis.
  • Comparative genomics for identifying structural variants.

Main Results:

  • MPS has led to an exponential increase in the discovery of smaller structural variation events.
  • Integrated experimental and computational approaches enhance accurate characterization of SVs.
  • Global discovery biases in SV detection are being addressed.

Conclusions:

  • Structural variation plays a more significant role than previously thought in human genome alteration.
  • Continued methodological advancements are crucial for comprehensive SV discovery and genotyping.
  • Routine, cost-effective, high-quality de novo human genome assembly is the ultimate goal for fully assessing all SV classes.