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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...

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

Multiple Allele Traits

Multiple Allele Traits

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Polygenic Traits

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

Polygenic Traits

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

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...

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Related Experiment Video

Updated: Jul 5, 2026

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

Overview of linkage analysis in complex traits.

M A Pericak-Vance¹

¹Duke University Medical Center, Durham, North Carolina, USA.

Current Protocols in Human Genetics

|April 23, 2008

Summary

This unit explains methods for mapping complex genetic diseases, which are traits with unknown inheritance patterns. Understanding these approaches is key to advancing genetic research and disease study.

Area of Science:

Genetics
Genomics
Medical Research

Background:

Complex genetic diseases involve traits with unknown inheritance patterns.
Mapping these diseases is crucial for understanding their genetic underpinnings.
Current research focuses on developing effective mapping strategies.

Purpose of the Study:

To provide an overview of current methodologies for mapping complex genetic diseases.
To educate readers on the general approaches used in this field.
To highlight the importance of mapping complex diseases for future research.

Main Methods:

Review of existing literature on complex disease mapping techniques.
Explanation of various genetic mapping strategies.
Discussion of computational and statistical approaches.

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A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

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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

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Last Updated: Jul 5, 2026

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

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

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

Main Results:

Identification of key challenges in mapping complex diseases.
Overview of established and emerging mapping methodologies.
Framework for understanding different approaches to genetic disease mapping.

Conclusions:

General approaches for mapping complex genetic diseases are available.
Continued development of mapping techniques is essential for genetic research.
This unit serves as a foundational guide to complex disease mapping.