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

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%...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

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...

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,...

Epistasis Analysis

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...

Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

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...

Pharmacogenomics: Identification of New Drug Targets

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

You might also read

Related Articles

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

Sort by

Same author

Modernizing Pesticide Risk Assessment: Technical Advancements as the Path toward Global Food Security.

Journal of agricultural and food chemistry·2026

Same author

Sperm-female interactions in the pig oviduct, a key for insemination success?

The Journal of reproduction and development·2026

Same author

Molecular mechanism leading to human coronary atherosclerosis assessed by proteomic analysis and RNA sequences.

European heart journal·2026

Same author

ECG Sex Index in children and adolescents.

European heart journal. Digital health·2026

Same author

Designed Water Capture in Terpene Synthase Catalysis.

Chembiochem : a European journal of chemical biology·2026

Same author

Microbial Metabolism and Disease Virulence Changes Across Day and Night in Coral Black Band Disease Lesions.

Environmental microbiology·2026

Search research articles

Related Experiment Video

Updated: Jun 6, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

A Ground Truth Based Comparative Study on Detecting Epistatic SNPs.

Li Chen¹, Guoqiang Yu, David J Miller

¹Dearptment of Electrical & Computer Engineering, Virginia Polytechnic Institute and State University.

Proceedings. IEEE International Conference on Bioinformatics and Biomedicine

|December 15, 2010

Summary

This study compares nine popular methods for detecting single nucleotide polymorphism (SNP) interactions, crucial for understanding complex disease genetics. The findings offer practical guidelines for researchers investigating genetic risk factors.

More Related Videos

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

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

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

Published on: August 21, 2016

Related Experiment Videos

Last Updated: Jun 6, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

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

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

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

Published on: August 21, 2016

Area of Science:

Genetics
Bioinformatics
Computational Biology

Background:

Genome-wide association studies (GWAS) identify single nucleotide polymorphisms (SNPs) linked to complex diseases.
SNP interactions are increasingly recognized as vital contributors to disease risk.
Existing methods for detecting SNP interactions lack clear comparative performance data.

Purpose of the Study:

To conduct a ground-truth based comparative analysis of popular SNP interaction detection methods.
To clarify the relative performance and merits of different SNP detection approaches.
To provide practical guidelines for biological investigators using these methods.

Main Methods:

Utilized realistic simulation datasets for a robust comparative study.
Evaluated nine popular methods for detecting SNP interactions.
Performed a ground-truth based assessment to determine method efficacy.

Main Results:

Presented a comparative analysis of nine SNP detection methods.
Characterized the general performance and limitations of each method.
Identified key insights into the practical application of SNP interaction detection techniques.

Conclusions:

The study offers valuable insights into the performance of various SNP interaction detection methods.
Provides practical guidelines to aid researchers in selecting appropriate methods for genetic studies.
Highlights the importance of comparative studies for advancing the field of genetic risk factor identification.