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

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,...
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%...
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...

You might also read

Related Articles

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

Sort by
Same author

Clinical Characteristics and Outcomes of Korean Patients with Lipoid Congenital Adrenal Hyperplasia: An Analysis of Data from the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) Cohort Study.

Endocrinology and metabolism (Seoul, Korea)·2026
Same author

Supercritically Extracted Mealworm Oil Alleviates High-Fat Diet-Induced Obesity by Modulating Gut Microbiota in Mice.

Molecular nutrition & food research·2026
Same author

Biofilm formation, cell hydrophobicity, cytotoxic potential, genetic diversity, resistance to antimicrobials, and toxigenic profile properties among <i>Bacillus cereus</i> groups isolated from kitchen sponges in the Republic of Korea.

Food science and biotechnology·2026
Same author

Polystyrene microplastics induce skeletal muscle atrophy through disruption of anabolic signaling and mitochondrial function.

Toxicology·2026
Same author

Identification of Metabolites and Antioxidant Constituents from <i>Pyrus ussuriensis</i>.

Pharmaceuticals (Basel, Switzerland)·2026
Same author

Extract of Aerial Parts of "Tongchaeru" Sweet Potato Attenuates Muscle Atrophy via Mitochondrial Improvement and PI3K-Akt Pathway Activation in a Mouse Model.

Journal of food science·2026

Related Experiment Video

Updated: Jun 18, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Development of SNP-based human identification system.

Jae-Jung Kim1, Bok-Ghee Han, Hae-In Lee

  • 1Asan Institute for Life Sciences, University of Ulsan College of Medicine, 388-1 Pungnap-2-Dong, Songpa-Gu, Seoul, Korea.

International Journal of Legal Medicine
|November 19, 2009
PubMed
Summary

Single nucleotide polymorphisms (SNPs) are valuable forensic tools for sex determination and human identification. These DNA markers offer high accuracy, even in homogeneous populations, enhancing forensic analysis.

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

Related Experiment Videos

Last Updated: Jun 18, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

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

Area of Science:

  • Forensic genetics
  • Human identification
  • Molecular biology

Background:

  • Single nucleotide polymorphisms (SNPs) are abundant, stable, and amenable to high-throughput genotyping, making them attractive for forensic applications.
  • Existing forensic methods can be enhanced by incorporating SNP markers due to their unique properties.

Purpose of the Study:

  • To evaluate the utility of six SNP markers for sex determination.
  • To assess the effectiveness of 30 autosomal SNP markers for human identification in a Korean population.

Main Methods:

  • Resequencing of amelogenin and zinc finger genes for sex determination SNP identification.
  • Selection and genotyping of 30 autosomal SNPs for human identification.
  • Analysis of genotyping data from 8,842 Korean individuals.

Main Results:

  • Six SNP markers were identified for reliable sex determination.
  • A combined mean match probability of 4.83 x 10(-13) was achieved with 30 autosomal SNPs.
  • Discrimination power increased tenfold with every five additional SNP markers.

Conclusions:

  • SNP markers are highly effective for both sex determination and human identification.
  • The utility of SNPs is demonstrated even in genetically homogeneous populations.
  • SNPs significantly enhance the discriminatory power in forensic DNA analysis.