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...

Pedigree Analysis

Pedigree Analysis

Pedigree Analysis

Pedigree Analysis

Bipolar Disorder

Bipolar Disorder

Bipolar disorder is a chronic mental health condition marked by significant mood fluctuations, including episodes of mania and depression. Elevated energy levels, heightened mood or irritability, impulsive behavior, reduced sleep needs, rapid speech, racing thoughts, inflated self-esteem, and distractibility characterize mania. Individuals with bipolar disorder often alternate between depressive and manic states, with periods of emotional stability lasting an average of six months to a year.

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,...

Behavioral Genetics and Its Designs

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...

You might also read

Related Articles

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

Sort by

Same author

Canadian Surgery Forum: Abstracts of presentations to the Annual Meetings of the Canadian Association of Bariatric Physicians and Surgeons, Canadian Association of General Surgeons, Canadian Association of Thoracic Surgeons, Canadian Hepato-Pancreato-Biliary Association, Canadian Society of Surgical Oncology, Canadian Society of Colon and Rectal Surgeons, Vancouver, BC, Sept. 17-21, 2013.

Canadian journal of surgery. Journal canadien de chirurgie·2025

Same author

Cerium doped yttrium aluminum perovskite scintillator as an absolute ultracold neutron detector.

The Review of scientific instruments·2024

Same author

Refining the hospitalization rate: A mixed methods approach to differentiate primary COVID-19 from incidental cases.

Infection prevention in practice·2024

Same author

Retraction Note: Study on the functions and mechanism of immune functions of human telomerase reverse transcriptase regulating dendritic cells treating sepsis.

European review for medical and pharmacological sciences·2024

Same author

Scintillation characteristics of the EJ-299-02H scintillator.

The Review of scientific instruments·2024

Same author

Differentiation of giant cell tumours of bone, primary aneurysmal bone cysts, and aneurysmal bone cysts secondary to giant cell tumour of bone: using whole-tumour CT texture analysis parameters as quantitative biomarkers.

Clinical radiology·2023

Search research articles

Related Experiment Video

Updated: May 30, 2026

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms.

J A Badner¹, D Koller, T Foroud

¹Department of Psychiatry, University of Chicago, Chicago, IL, USA.

Molecular Psychiatry

|July 20, 2011

Summary

This summary is machine-generated.

This study pooled genetic data from nearly 1000 families to identify Bipolar I disorder (BPI) risk loci. Genome-wide significant findings were observed on chromosomes 6q21 and 9q21, aiding future rare variant searches.

More Related Videos

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

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

Related Experiment Videos

Last Updated: May 30, 2026

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

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

Area of Science:

Genetics
Psychiatric Disorders
Genomic Analysis

Background:

Bipolar I disorder (BPI) linkage studies are often limited by small sample sizes and low genetic information content.
Microsatellite markers may be less informative in smaller pedigrees, necessitating higher density genotyping for robust genetic analysis.

Purpose of the Study:

To increase genetic information content in Bipolar I disorder (BPI) linkage studies by pooling resources and performing higher density genotyping.
To identify potential susceptibility loci for BPI and related disorders through comprehensive linkage analysis.

Main Methods:

Genotyped 972 informative pedigrees (European ancestry) using a dense panel of 6090 single-nucleotide polymorphisms (SNPs).
Analyzed linkage using parametric and non-parametric methods across three affection status models, including BPI, BPII, and recurrent major depression.
Applied genome-wide significance criteria and inspected parametric scores for rare variant localization.

Main Results:

Achieved a mean information content of 0.86 after pruning for linkage disequilibrium.
Identified strongest linkage signals for BPI and schizoaffective disorder at 6q21 (LOD 3.4) and 9q21 (LOD 3.4).
Observed 59 parametric LODs of 2 or greater in larger multiplex families, suggesting potential rare susceptibility loci.

Conclusions:

The study successfully enhanced genetic information content and identified suggestive linkage regions for BPI.
Findings provide a foundation for prioritizing rare variant discovery using whole exome or genome sequencing in BPI and related disorders.