Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs

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 SNPs

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%...

You might also read

Related Articles

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

Sort by

Same author

BATF-dependent Th17 cells act through the IL-23R pathway to promote prostate adenocarcinoma initiation and progression.

Journal of the National Cancer Institute·2024

Same author

The awareness and acceptance of HPV vaccines among parents of primary and junior high school students in China: a meta-analysis.

Infectious medicine·2024

Same author

Peripheral Blood Markers Correlate with the Progression of Active Tuberculosis Relative to Latent Control of <i>Mycobacterium tuberculosis</i> Infection in Macaques.

Pathogens (Basel, Switzerland)·2022

Same author

Meta-analysis and machine learning-augmented mixed effects cohort analysis of improved diets among 5847 medical trainees, providers and patients.

Public health nutrition·2021

Same author

A Novel Controlled PTEN-Knockout Mouse Model for Prostate Cancer Study.

Frontiers in molecular biosciences·2021

Same author

SET levels contribute to cohesion fatigue.

Molecular biology of the cell·2021

Search research articles

Related Experiment Video

Updated: Jul 10, 2026

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

SNPHunter: a versatile web-based tool for acquiring and managing single nucleotide polymorphisms.

Methods in Molecular Biology (Clifton, N.J.)

|November 21, 2007

Summary

SNPHunter is a web tool for searching and managing single nucleotide polymorphisms (SNPs) from dbSNP. It aids researchers in selecting optimal SNP sets for disease variant studies.

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Related Experiment Videos

Last Updated: Jul 10, 2026

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Area of Science:

Genetics
Bioinformatics

Background:

Single nucleotide polymorphisms (SNPs) are abundant genetic variations in the human genome.
SNPs serve as crucial markers for identifying causal variants in human diseases.
Efficient tools are needed for researchers to select appropriate SNP datasets.

Purpose of the Study:

Introduce SNPHunter, a novel web-based software.
Facilitate SNP searching, retrieval, and management.
Enable automatic SNP selection based on user-defined criteria.

Main Methods:

Developed a web application for SNP data handling.
Integrated with the National Center for Biotechnology Information (NCBI) dbSNP database.
Implemented search (ad hoc and batch), retrieval, management, and automatic selection functionalities.

Main Results:

SNPHunter allows ad hoc and batch searching of SNPs.
Users can retrieve detailed SNP information, including position, function, flanking sequences, and heterozygosity.
The tool supports automatic SNP selection based on customizable criteria.

Conclusions:

SNPHunter provides a comprehensive platform for SNP analysis.
Facilitates efficient selection of SNP sets for genetic research.
Exportable SNP data supports downstream analyses in disease variant studies.