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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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...
Behavioral Genetics and Its Designs01:23

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...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

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...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

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Updated: May 24, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
08:27

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

Published on: July 27, 2021

Introduction to genetic association studies.

Cathryn M Lewis, Jo Knight

    Cold Spring Harbor Protocols
    |March 3, 2012
    PubMed
    Summary
    This summary is machine-generated.

    Genetic association studies identify disease-related genes by correlating genetic variations with disease status. This review outlines the design and analysis of case-control studies for candidate genes and regions.

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    Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
    08:27

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    Published on: July 27, 2021

    An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
    10:17

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    Area of Science:

    • Genetics
    • Bioinformatics
    • Epidemiology

    Background:

    • Genetic association studies are crucial for identifying genetic factors contributing to diseases.
    • Understanding the correlation between genetic variations and disease status is key in modern medicine.

    Purpose of the Study:

    • To provide a comprehensive overview of the design and analysis of genetic association studies.
    • To focus specifically on case-control study designs within candidate genes or genomic regions.

    Main Methods:

    • Outlining the fundamental principles of genetic association study design.
    • Detailing analytical approaches for case-control studies in candidate gene research.
    • Discussing the selection and validation of candidate genes or regions for study.

    Main Results:

    • Provides a framework for conducting robust genetic association studies.
    • Highlights key considerations in the design and analysis phases.
    • Emphasizes the utility of case-control studies for candidate gene discovery.

    Conclusions:

    • Genetic association studies, particularly case-control designs, are effective tools for pinpointing disease-related genes.
    • Proper design and analysis are essential for reliable identification of genetic contributions to disease.