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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

17.1K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
17.1K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.4K
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%...
19.4K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

119
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...
119
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

20.3K
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,...
20.3K
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

132
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
132
Case Studies01:22

Case Studies

13.9K
There are many research methods available to psychologists in their efforts to understand, describe, and explain behavior and the cognitive and biological processes that underlie it.
13.9K

You might also read

Related Articles

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

Sort by
Same author

Co-occurring clonal hematopoiesis exhibits strong selection and high leukemia risk.

Nature communications·2026
Same author

LANTERN: Leveraging Local Ancestry Tracts to Enhance Rare-Variant Aggregate Association Testing.

medRxiv : the preprint server for health sciences·2026
Same author

Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging.

American journal of respiratory and critical care medicine·2026
Same author

Comparing bulk and single-cell methodologies and models to profile gene expression, chromatin accessibility and regulatory links in endothelial cells treated with TNFα.

bioRxiv : the preprint server for biology·2026
Same author

Plasma proteome signatures are predictive of mortality in sickle cell disease.

Blood advances·2026
Same author

Genetic Contribution to Asthma Informs Acute Chest Syndrome Pathophysiology and Risk Stratification.

American journal of hematology·2026

Related Experiment Video

Updated: Apr 17, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K

Rare variant association studies: considerations, challenges and opportunities.

Paul L Auer1, Guillaume Lettre2

  • 1School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI 53201-0413 USA.

Genome Medicine
|February 25, 2015
PubMed
Summary

Rare variants, often missed by common variant studies, may explain heritability gaps. Most rare variants have small effects on traits, impacting our understanding of complex genetic diseases.

More Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

35.1K

Related Experiment Videos

Last Updated: Apr 17, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

35.1K

Area of Science:

  • Genetics
  • Genomics
  • Complex Trait Genetics

Background:

  • Genome-wide association studies (GWASs) identify common variants linked to complex traits and diseases.
  • A significant portion of heritability for these traits remains unexplained.
  • Low-frequency and rare variants, not captured by standard genotyping, are understudied contributors to complex trait genetics.

Purpose of the Study:

  • To review technologies for identifying rare genetic variants.
  • To compare study designs and analytical techniques for rare variant association studies (RVASs).
  • To discuss implications of rare variant effect sizes on unexplained heritability.

Main Methods:

  • Review of technologies for rare variant identification, including exome arrays.
  • Comparison of different study designs for RVASs, emphasizing phenotype-dependency.
  • Discussion of analytical issues: statistical methods for association testing and bioinformatic prediction of variant function.

Main Results:

  • Most identified rare variants exhibit modest-to-small effect sizes on phenotypic variation.
  • The choice of RVAS design is likely dependent on the specific phenotype under investigation.
  • Recent findings suggest rare variants contribute to complex trait genetics in unexpected ways.

Conclusions:

  • Rare variants are a crucial, yet understudied, component of complex trait genetics.
  • The modest effects of rare variants present challenges and opportunities for understanding unexplained heritability.
  • Phenotype-specific study designs and advanced analytical methods are essential for effective RVASs.