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

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.6K
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,...
14.6K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

11.6K
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%...
11.6K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.6K
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...
12.6K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

138
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
138
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

189
The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
189

You might also read

Related Articles

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

Sort by
Same author

Correlations between clot waveform analysis parameters and fibrinogen concentrations in cases with and without prolonged activated partial thromboplastin time or prothrombin time.

Clinica chimica acta; international journal of clinical chemistryยท2026
Same author

Validation of a candidate international harmonisation protocol-compliant measurement procedure for reticulocyte counting using an erythrocyte gating strategy excluding the platelet component.

Cytometry. Part B, Clinical cytometryยท2025
Same author

Clot waveform analysis potentially provides predictive information on the sensitivity of activated partial thromboplastin time reagents to lupus anticoagulants.

Clinica chimica acta; international journal of clinical chemistryยท2025
Same author

The Anti-Nucleocapsid IgG Antibody as a Marker of SARS-CoV-2 Infection for Hemodialysis Patients.

Vaccinesยท2025
Same author

Breakthrough Infection After a Primary Series of COVID-19 Vaccination Induces Stronger Humoral Immunity and Equivalent Cellular Immunity to the Spike Protein Compared with Booster Shots.

Vaccinesยท2025
Same author

Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity.

Cell genomicsยท2025

Related Experiment Video

Updated: May 3, 2026

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

16.5K

[Analysis of single nucleotide polymorphisms (SNPs)].

Masatoshi Wakui1

  • 1Department of Laboratory Medicine, School of Medicine, Keio University, Shinjuku-ku, Tokyo 160-8582, Japan. wakuism@a6.keio.jp

Rinsho Byori. the Japanese Journal of Clinical Pathology
|January 24, 2014
PubMed
Summary

Single nucleotide polymorphisms (SNPs) are key DNA variations used as markers in population genetics and medical science. Advances in DNA technology enable genome-wide association studies (GWAS) for personalized medicine.

Area of Science:

  • Genetics and Genomics
  • Molecular Biology
  • Bioinformatics

Context:

  • Single nucleotide polymorphisms (SNPs) represent common DNA sequence variations.
  • SNPs can occur within coding regions, altering protein sequences, or in non-coding regions, affecting gene regulation.
  • Their utility extends to population genetics and medical research.

Purpose:

  • To review the scientific significance and current advancements in SNP analysis.
  • To highlight the role of SNPs in understanding genetic diversity and disease association.
  • To discuss the impact of technological breakthroughs on SNP research.

Summary:

  • SNPs are valuable markers for examining linkage disequilibrium and genetic polymorphisms.
  • They aid in identifying genes associated with complex diseases, drug responses, and transplantation compatibility.

More Related Videos

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

11.7K
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

36.1K

Related Experiment Videos

Last Updated: May 3, 2026

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

16.5K
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

11.7K
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

36.1K
  • High-throughput technologies and genome-wide association studies (GWAS) facilitate comprehensive SNP analysis.

    • Impact:

    • SNP analysis, particularly through GWAS, supports the development of personalized medicine.
    • Understanding SNPs enhances our ability to map disease-related genes and predict individual health risks.
    • This research contributes to advancements in diagnostics and therapeutic strategies.