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%...

You might also read

Related Articles

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

Sort by
Same author

<i>Special Issue:</i> 13th International Conference on Computational Advances in Bio and Medical Sciences.

Journal of computational biology : a journal of computational molecular cell biology·2026
Same author

Assessment of PHRED Score Characteristics in Illumina MiSeq Amplicon Sequencing.

Journal of computational biology : a journal of computational molecular cell biology·2026
Same author

Estimating Enzyme Expression and Metabolic Pathway Activity in <i>Borreliella</i>-Infected and Uninfected Mice.

Journal of computational biology : a journal of computational molecular cell biology·2024
Same author

<i>Special Issue, Part I</i> 18th International Symposium on Bioinformatics Research and Applications (ISBRA 2022).

Journal of computational biology : a journal of computational molecular cell biology·2023
Same author

Assessing the Resilience of Machine Learning Classification Algorithms on SARS-CoV-2 Genome Sequences Generated with Long-Read Specific Errors.

Biomolecules·2023
Same author

Benchmarking machine learning robustness in Covid-19 genome sequence classification.

Scientific reports·2023

Related Experiment Video

Updated: Jul 9, 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

Linear reduction method for predictive and informative tag SNP selection.

Jingwu He, Kelly Westbrooks, Alexander Zelikovsky

    International Journal of Bioinformatics Research and Applications
    |December 1, 2007
    PubMed
    Summary

    This study introduces a linear algebra method to select informative tag SNPs for human haplotype mapping. The approach significantly reduces sequencing needs while accurately predicting unknown haplotypes for complex disease association studies.

    More Related Videos

    Targeted DNA Methylation Analysis by Next-generation Sequencing
    08:38

    Targeted DNA Methylation Analysis by Next-generation Sequencing

    Published on: February 24, 2015

    Related Experiment Videos

    Last Updated: Jul 9, 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

    Targeted DNA Methylation Analysis by Next-generation Sequencing
    08:38

    Targeted DNA Methylation Analysis by Next-generation Sequencing

    Published on: February 24, 2015

    Area of Science:

    • Genomics
    • Bioinformatics
    • Computational Biology

    Background:

    • Human haplotype maps are crucial for associating complex diseases with single nucleotide polymorphisms (SNPs).
    • Sequencing large numbers of individuals for comprehensive SNP analysis is cost-prohibitive.
    • Reducing the number of SNPs to a representative set, known as tag SNPs, is essential for efficient genetic studies.

    Purpose of the Study:

    • To develop a novel linear algebra-based method for selecting and utilizing tag SNPs.
    • To reduce the cost and complexity of constructing human haplotype maps.
    • To improve the accuracy of predicting unknown haplotypes using a minimal set of SNPs.

    Main Methods:

    • A linear algebra-based algorithm was developed for tag SNP selection.
    • The quality of the tag SNP selection was assessed by comparing actual SNPs with those predicted from linearly independent tag SNPs.
    • The method was applied to predict unknown haplotypes based on a small subset of SNPs.

    Main Results:

    • The proposed linear reduction method effectively selects informative tag SNPs.
    • Accurate prediction of unknown haplotypes was achieved with a low error rate (below 2%).
    • Knowledge of only 0.4% of all SNPs was sufficient for accurate haplotype prediction in 10% of the population for long haplotypes.

    Conclusions:

    • The developed linear algebra method offers an efficient and cost-effective approach for tag SNP selection.
    • This method significantly reduces the number of SNPs required for haplotype mapping, facilitating complex disease association studies.
    • The findings demonstrate the potential of linear reduction techniques in advancing genomic research and personalized medicine.