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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...

Genome Size and the Evolution of New Genes

Genome Size and the Evolution of New Genes

While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.

Genome Annotation and Assembly

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.

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Related Experiment Video

Updated: Jun 4, 2026

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

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

Published on: June 28, 2018

Generating HapMap Data Text Reports Using the Genome Browser.

Albert Vernon Smith

|March 2, 2011

Summary

This summary is machine-generated.

The International Haplotype Map Project created a human genome map detailing common genetic variations. This resource, including millions of single-nucleotide polymorphisms (SNPs), accelerates disease gene discovery and is publicly accessible online.

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Last Updated: Jun 4, 2026

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Published on: May 22, 2018

Area of Science:

Human Genetics
Genomics
Bioinformatics

Background:

The International Haplotype Map Project aimed to map common human genetic variations.
Understanding these variations is crucial for identifying genetic factors in diseases.

Purpose of the Study:

To develop a comprehensive haplotype map of the human genome.
To provide a publicly accessible resource for genetic research.
To facilitate the discovery of genes associated with human diseases.

Main Methods:

Genotyping of approximately 3.9 million single-nucleotide polymorphisms (SNPs).
Analysis of data from 270 individuals across four global populations.
Development of a website for data access, browsing, and analysis.

Main Results:

A detailed haplotype map of the human genome has been generated.
Extensive genotype data for millions of SNPs are publicly available.
The HapMap website serves as a central portal for accessing and analyzing this data.

Conclusions:

The HapMap project provides a valuable resource for accelerating genetic research.
Public availability of the data enables broad scientific collaboration and discovery.
The developed tools facilitate local analysis of genomic regions of interest.