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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...

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Related Experiment Video

Updated: Jun 4, 2026

Informatic Analysis of Sequence Data from Batch Yeast 2-Hybrid Screens

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Retrieving HapMap Data Using HapMart.

Albert Vernon Smith

|March 2, 2011

Summary

This summary is machine-generated.

The International Haplotype Map Project created a comprehensive human genome map detailing common genetic variations. This resource accelerates disease gene discovery by providing access to millions of single-nucleotide polymorphisms (SNPs) for researchers worldwide.

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Area of Science:

Genomics
Human Genetics
Bioinformatics

Background:

Genetic variation is crucial for understanding human disease.
Previous efforts lacked a comprehensive map of common human genetic variations.
Accelerating the identification of genetic factors in diseases is a key challenge.

Purpose of the Study:

To develop a haplotype map of the human genome.
To describe common patterns of genetic variation.
To facilitate the discovery of genes underlying human diseases.

Main Methods:

Genotyping of approximately 3.9 million single-nucleotide polymorphisms (SNPs).
Analysis of data from 270 individuals across four worldwide populations.
Development of the HapMap Web site for data access and analysis.

Main Results:

Creation of a detailed haplotype map of the human genome.
Identification of millions of common single-nucleotide polymorphisms (SNPs).
Public availability of extensive genotype data through the HapMap Web site.

Conclusions:

The HapMap provides a valuable resource for genetic research.
The data accelerates the search for genetic causes of human diseases.
Accessible data and tools empower researchers to explore human genetic variation.