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

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...

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%...

Modern Molecular Taxonomy

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...

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...

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

You might also read

Related Articles

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

Sort by

Same author

Common and rare variant genetic contributions in African Americans with autism.

medRxiv : the preprint server for health sciences·2025

Same author

Preimplantation genetic testing for polygenic disorders: Viewpoints of reproductive genetic counselors and reproductive endocrinology and infertility specialists in the United States.

Journal of genetic counseling·2025

Same author

Gut microbe-derived metabolites and the risk of cardiovascular disease in the METSIM cohort.

Frontiers in microbiology·2024

Same author

Cultural, demographic, and other non-demographic factors associated with cancer genetic counseling patients' appointment accompaniment preferences in the United States.

Journal of genetic counseling·2024

Same author

Relationships and Mendelian Randomization of Gut Microbe-Derived Metabolites with Metabolic Syndrome Traits in the METSIM Cohort.

Metabolites·2024

Same author

Development of multivariable models to predict perinatal depression before and after delivery using patient reported survey responses at weeks 4-10 of pregnancy.

BMC pregnancy and childbirth·2022

Search research articles

Related Experiment Video

Updated: May 27, 2026

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

Detecting rare variant associations: methods for testing haplotypes and multiallelic genotypes.

Rita M Cantor¹, Marsha Wilcox

¹Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095-7088, USA. rcantor@mednet.ucla.edu

Genetic Epidemiology

|December 1, 2011

Summary

Researchers analyzed genetic variants and single-nucleotide polymorphisms (SNPs) using diverse methods for simulated traits. Multiallelic approaches effectively identified associated genes, highlighting the impact of inheritance models and genetic entity selection.

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: May 27, 2026

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

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
Statistical Genetics
Bioinformatics

Background:

Genetic Analysis Workshop 17 (GAW17) provided simulated data for analyzing genetic associations.
Group 13 contributors explored various analytical strategies for complex genetic traits.

Purpose of the Study:

To synthesize and compare diverse analytical approaches used by Group 13 for GAW17 data.
To evaluate methods for testing associations of rare variants and common single-nucleotide polymorphisms (SNPs) with simulated traits.

Main Methods:

Contributors employed a range of statistical methods, incorporating multiallelic genotypes and haplotypes.
Genetic entities were selected and coded variably, including sliding windows, haplotypes, and gene-based approaches.
Analyses focused on identifying associations between genetic variants and simulated disease traits.

Main Results:

Most methods successfully identified two associated genes for each simulated trait.
The top gene was often associated with the most causal alleles, while the second was linked to a high-frequency causal SNP.
Multiallelic analytic approaches were consistently favored for potentially increasing statistical power.

Conclusions:

The choice of genetic entities and inheritance models significantly influences the outcomes of genetic association analyses.
Diverse analytical strategies, particularly those leveraging multiallelic information, show promise in identifying trait-associated genes.
Flexibility and creativity in coding and evaluating genetic variants are crucial for robust analysis.