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

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...
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%...
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,...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...

You might also read

Related Articles

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

Sort by
Same author

Decoding anammox granulation: Microbial interactions promote granule formation and indirectly shape antibiotic resistance gene dissemination.

Water research·2025
Same author

The effect and mechanism of microplastics to the N<sub>2</sub>O emission in underground and aboveground wastewater treatment plants.

Environmental science and pollution research international·2025
Same author

Enhanced anaerobic digestion of waste-activated sludge by thermal-alkali pretreatment: a pilot-scale study.

Water science and technology : a journal of the International Association on Water Pollution Research·2024
Same author

Effects of carbonization temperature and time on the characteristics of carbonized sludge.

Water science and technology : a journal of the International Association on Water Pollution Research·2024
Same author

How does trade policy uncertainty affect green innovation in the USA and China? A nonlinear perspective.

Environmental science and pollution research international·2024
Same author

Exploring the impact of formal and informal finance on green innovation under the lens of carbon neutrality.

Environmental science and pollution research international·2023

Related Experiment Video

Updated: May 18, 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

Evaluating coverage of exons by HapMap SNPs.

Xiao Dong1, Tingyan Zhong, Tao Xu

  • 1Key Laboratory of Systems Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, People's Republic of China.

Genomics
|September 25, 2012
PubMed
Summary
This summary is machine-generated.

Genome-wide association studies use single-nucleotide polymorphisms (SNPs) to find disease genes. However, SNP coverage is limited, with only 50% of human exons fully covered by current SNP sets, necessitating higher-resolution methods.

More Related Videos

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Related Experiment Videos

Last Updated: May 18, 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

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Area of Science:

  • Genomics
  • Genetic Epidemiology
  • Bioinformatics

Background:

  • Genome-wide association (GWA) studies are crucial for identifying genetic variants linked to diseases.
  • Single-nucleotide polymorphisms (SNPs) are commonly employed as genetic markers in GWA studies.
  • Assessing the extent of genetic variation covered by SNPs via linkage disequilibrium (LD) is critical for study power.

Purpose of the Study:

  • To evaluate the coverage of human genome exons by various SNP sets using haplotype blocks.
  • To compare the coverage provided by the HapMap dataset and four commercial SNP arrays.

Main Methods:

  • Utilized the concept of haplotype blocks to assess SNP coverage.
  • Examined coverage for every exon in the human genome.
  • Compared five distinct SNP sets, including HapMap and commercial arrays.

Main Results:

  • Haplotype block analysis revealed that approximately 50% of human exons are completely covered by HapMap SNPs.
  • Some commercial SNP arrays demonstrated coverage comparable to the HapMap dataset.
  • Significant gaps in exon coverage were identified across all tested SNP sets.

Conclusions:

  • Current SNP sets, including HapMap, provide incomplete coverage of human exons.
  • Higher-resolution genotyping methods are necessary to enhance genome-wide association study power.
  • Further research is needed to optimize SNP selection for comprehensive genetic variation capture.