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,...

Modern Molecular Taxonomy

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

Florida scrub-jay genomes across space and time reveal impacts of population decline and reduced gene flow.

Current biology : CB·2026

Same author

Female genetic variation controlling timing of mating plug ejection in <i>Drosophila melanogaster</i>.

bioRxiv : the preprint server for biology·2026

Same author

Comparative population genomics reveals adaptive convergence in two Drosophila species across global environments.

Cell reports·2026

Same author

Correlated gene copy number changes in a seminal fluid protein network in <i>Drosophila</i>.

Proceedings of the National Academy of Sciences of the United States of America·2026

Same author

The Stellate meiotic drive system of Drosophila melanogaster is active in contemporary populations.

Genetics·2026

Same author

e3SIM: Epidemiological-ecological-evolutionary simulation framework for genomic epidemiology.

Methods in ecology and evolution·2026

Search research articles

Related Experiment Video

Updated: Jul 15, 2026

Robust 3D DNA FISH Using Directly Labeled Probes

Robust 3D DNA FISH Using Directly Labeled Probes

Published on: August 15, 2013

A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.

Tara C Matise¹, Ravi Sachidanandam, Andrew G Clark

¹Department of Genetics, Rutgers University, Piscataway, NJ, 08840, USA. matise@biology.rutgers.edu

American Journal of Human Genetics

|July 5, 2003

Summary

This study introduces a novel single-nucleotide polymorphism (SNP) screening set and linkage map, crucial for efficient genomewide association studies. This resource aids in rapidly scanning genomes for disease genes, offering improved informativeness over existing methods.

More Related Videos

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Related Experiment Videos

Last Updated: Jul 15, 2026

Robust 3D DNA FISH Using Directly Labeled Probes

Robust 3D DNA FISH Using Directly Labeled Probes

Published on: August 15, 2013

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genetics
Genomics
Bioinformatics

Background:

High-throughput single-nucleotide polymorphism (SNP) genotyping technologies have advanced, making them suitable for genomewide linkage analysis.
A comprehensive SNP screening set and linkage map were previously lacking for efficient disease gene discovery.

Purpose of the Study:

To develop and characterize a robust SNP screening set and linkage map for genomewide association studies.
To provide a valuable resource for accelerating the identification of disease-associated genes.

Main Methods:

Evaluation of 6,297 SNPs for assay robustness, allele frequencies, and cluster informativeness in diverse populations.
Genotyping of 2,988 SNPs in 56 Centre d'Etude du Polymorphisme Humain pedigrees for linkage map construction.
Extensive genotyping error analysis and comparison with existing physical and linkage maps.

Main Results:

Development of an SNP linkage map with an average resolution of 3.9 cM, featuring single or tightly linked SNPs.
The generated map demonstrates favorable marker order compared to other established maps.
The SNP screening set proved more informative than the commonly used Marshfield Clinic microsatellite set.

Conclusions:

The developed SNP screening set and linkage map represent a significant advancement for genomewide linkage analysis.
This resource facilitates faster and more efficient genome scanning for identifying disease genes.
The map provides insights into recombination rates across human chromosomes.