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,...

Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....

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

Towards globally equitable bioinformatics adoption.

PLoS biology·2026

Same author

Aardvark: sifting through differences in a mound of variants.

Genome biology·2026

Same author

High KIR diversity in Uganda and Botswana children living with HIV.

Human immunology·2026

Same author

Machine Learning Identifies Potential Accessory Resistance-Associated Mutations in HIV-1 Integrase.

Research square·2026

Same author

Potential of machine learning for prevention and control of neglected tropical diseases: a scoping review.

Communications medicine·2026

Same author

Influence of chitin nanocrystal content on intermolecular interactions, crystallinity, and properties of starch-chitosan composite films.

International journal of biological macromolecules·2026

Same journal

Genetic Impacts on Variability of Body Fat Distribution Uncover Gene-Environment and Gene-Gene Interactions.

bioRxiv : the preprint server for biology·2026

Same journal

16S ribosomal RNA modification drives transcript-specific translation efficiency.

bioRxiv : the preprint server for biology·2026

Same journal

FlcE latches onto the FliL-stator complex to turbocharge flagellar motility in <i>Borrelia burgdorferi</i>.

bioRxiv : the preprint server for biology·2026

Same journal

Synaptic pruning, myelination and the emergence of psychiatric disorders in late adolescence.

bioRxiv : the preprint server for biology·2026

Same journal

Structural and functional insights into the Rcs phosphorelay.

bioRxiv : the preprint server for biology·2026

Same journal

The structural basis of RanGAP1 regulation and catalysis in nuclear transport.

bioRxiv : the preprint server for biology·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Aug 6, 2025

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

A deep population reference panel of tandem repeat variation.

Helyaneh Ziaei Jam¹, Yang Li², Ross DeVito¹

¹Department of Computer Science and Engineering, University of California San Diego, La Jolla, CA.

Biorxiv : the Preprint Server for Biology

|March 22, 2023

Summary

This summary is machine-generated.

This study deeply characterizes tandem repeat (TR) variation in humans using whole genome sequencing. The findings provide a valuable resource for understanding TRs

More Related Videos

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 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

Related Experiment Videos

Last Updated: Aug 6, 2025

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

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 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

Area of Science:

Genomics
Human Genetics

Background:

Tandem repeats (TRs) are a significant source of human genetic variation.
TRs are linked to various human phenotypes and diseases.

Approach:

Deep characterization of TR variation using high-coverage whole genome sequencing from 3,550 individuals.
Development of EnsembleTR, a novel method integrating genotypes from four separate tools for high-quality TR genotyping.
Creation of a phased haplotype panel for accurate imputation of TRs from single nucleotide polymorphisms (SNPs).

Key Points:

Catalog of over 1.7 million TR loci with high-quality genotypes.
Identification of novel sequence features influencing TR heterozygosity.
Discovery of population-specific trinucleotide expansions and hundreds of novel expression quantitative trait loci (eQTL) signals.

Conclusions:

The generated TR genotypes and haplotype panel are valuable resources for future genetic studies.
This work advances the understanding of TR variation and its role in human phenotypes.
Facilitates genome-wide and population-wide investigations into TRs.