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

18.7K
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,...
18.7K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.8K
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%...
18.8K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

29
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
29

You might also read

Related Articles

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

Sort by
Same author

Comprehensive Proteomic Profiling Reveals Molecular Mechanisms Mediating Chemoradiotherapy Efficacy in Lung Cancer.

Journal of proteome research·2026
Same author

An exploratory study on whole-lung radiomics features from computed tomography for prognostic prediction in non-small cell lung cancer with concurrent chemoradiotherapy.

Translational cancer research·2026
Same author

HMGB1 blockade attenuates cardiac injury induced by radiotherapy combined with PD-1 inhibitor while maintaining the anti-tumor efficacy.

Apoptosis : an international journal on programmed cell death·2026
Same author

Design, synthesis, and anti-colorectal cancer activity of quinoxalines with improved drug-like properties.

Bioorganic chemistry·2026
Same author

Deulorlatinib (TGRX-326) in ALK Gene Fusion Positive NSCLC After Failure of Second-Generation Inhibitors: A Single-Arm, Multicenter, Phase 2 Trial.

Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer·2026
Same author

MTHFD2 is required for DNA repair and implicated in LUAD radiotherapy resistance.

Journal of translational medicine·2026
Same journal

Isolation of Mesenchymal Stem Cell-Derived Extracellular Vesicles.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

Modeling Melanoma Immune Surveillance by CAR-T Cells in Human Skin Organoids.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

Stepwise Optimization of a Matrigel-Based In Vitro Angiogenesis Assay for Reproducible and Quantifiable 2D-Tube Formation Using HUVECs.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

Quantifying Mechanical Properties of Fresh Ovarian Tissue with Optical Brillouin Microscopy.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

3D Chromatin Architecture During Early Development: New Methods and New Findings.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

Metabolic Plasticity in Embryogenesis Throughout the Lens of NAD<sup></sup>.

Methods in molecular biology (Clifton, N.J.)·2026
See all related articles

Related Experiment Video

Updated: Feb 21, 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

15.8K

Detecting Multiethnic Rare Variants.

Weiwei Ouyang1, Xiaofeng Zhu2, Huaizhen Qin3,4

  • 1Department of Global Biostatistics and Data Science, Tulane University School of Public Health and Tropical Medicine, 1440 Canal Street, Suite 1610, New Orleans, LA, 70112, USA.

Methods in Molecular Biology (Clifton, N.J.)
|October 6, 2017
PubMed
Summary
This summary is machine-generated.

Rare genetic variants significantly impact complex diseases, prompting advanced analysis. Sequence Kernel Association Tests (SKATs) are adapted for admixed populations, integrating ancestry and refining association studies.

Keywords:
Admixed populationCommon disease–rare variants hypothesisCryptic relatednessFamily designsGlobal ancestryHomogeneous populationLinear mixed-effect modelsLocal ancestryNext-generation sequencingPopulation structureSib pair designsUnrelated individuals

More Related Videos

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.6K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.5K

Related Experiment Videos

Last Updated: Feb 21, 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

15.8K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.6K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.5K

Area of Science:

  • Genetics and Genomics
  • Statistical Genetics
  • Population Genetics

Background:

  • Genome-wide association studies (GWAS) identify common variants linked to diseases.
  • Common variants explain a small fraction of complex disease heritability, indicating missing heritability.
  • Rare genetic variants are hypothesized to contribute to the missing heritability of complex diseases.

Purpose of the Study:

  • To explore the role of rare variants in common diseases.
  • To illustrate the application of Sequence Kernel Association Tests (SKATs) for rare variant analysis.
  • To address limitations of SKATs in admixed populations and propose modifications.

Main Methods:

  • Utilized next-generation sequencing technologies for rare variant detection.
  • Applied and illustrated Sequence Kernel Association Tests (SKATs) for association analysis.
  • Developed modifications to SKATs to account for local allele ancestries and population structure in admixed genomes.

Main Results:

  • Demonstrated the utility of SKATs in analyzing the cumulative effect of rare variants.
  • Highlighted caveats associated with standard SKATs, particularly in admixed populations.
  • Showcased methods to integrate local ancestry and calibrate for cryptic relatedness and population structure.

Conclusions:

  • Rare variants are crucial for understanding complex disease etiology.
  • SKATs are powerful tools for rare variant association studies, but require adaptation for admixed populations.
  • Modified SKATs enhance the accuracy of genetic association studies in diverse populations.