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...

Horizontal Gene Transfer

Horizontal Gene Transfer

Horizontal gene transfer (HGT) is a process where genetic material moves between organisms within the same generation, unlike vertical gene transfer, which occurs from parent to offspring. HGT plays a crucial role in microbial evolution, adaptation, and survival, particularly in shared environments like the human gut.Mobile genetic elements such as plasmids, prophages, integrons, insertion sequences, and transposons facilitate this process. HGT occurs through three primary mechanisms:...

Sanger Sequencing

Sanger Sequencing

DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...

Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.

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.

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,...

You might also read

Related Articles

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

Sort by

Same author

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.

Kidney international·2008

Same author

Commentary: Growth of beanbag genetics.

International journal of epidemiology·2008

Same author

Mapping a gene for rheumatoid arthritis on chromosome 18q21.

BMC proceedings·2008

Same author

A comparison of methods to detect recombination hotspots.

Human heredity·2008

Same author

A history of association mapping.

Methods in molecular biology (Clifton, N.J.)·2007

Same author

Effects of single SNPs, haplotypes, and whole-genome LD maps on accuracy of association mapping.

Genetic epidemiology·2007

Search research articles

Related Experiment Video

Updated: Jul 6, 2026

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

Into the post-HapMap era.

Newton E Morton¹

¹Human Genetics Division, University of Southampton, Southampton, United Kingdom.

Advances in Genetics

|March 25, 2008

Summary

The HapMap Project advanced genetic epidemiology by enabling association mapping for complex diseases. This shift from linkage analysis utilizes linkage disequilibrium (LD) maps for precise gene identification, improving disease and therapy response studies.

Area of Science:

Genetics
Epidemiology
Bioinformatics

Background:

The HapMap Project has redirected genetic epidemiology from linkage studies to association mapping for complex traits.
Advances in genome-wide association scans (GWAS) in June 2007 marked significant progress.

Purpose of the Study:

To detail the shift in genetic epidemiology towards association mapping using the HapMap Project.
To highlight the creation and utility of population-specific linkage disequilibrium (LD) maps.
To discuss methods for integrating genetic evidence via meta-analysis.

Main Methods:

Utilizing the Human Genome Project's physical map and HapMap structural polymorphism data.
Developing population-specific LD maps to reflect fine genetic structure.

More Related Videos

High-throughput Physical Mapping of Chromosomes using Automated in situ Hybridization

High-throughput Physical Mapping of Chromosomes using Automated in situ Hybridization

Published on: June 28, 2012

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

Related Experiment Videos

Last Updated: Jul 6, 2026

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

High-throughput Physical Mapping of Chromosomes using Automated in situ Hybridization

High-throughput Physical Mapping of Chromosomes using Automated in situ Hybridization

Published on: June 28, 2012

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

Employing composite likelihood for meta-analysis, incorporating standard error estimation.

Main Results:

Creation of high-resolution LD maps for association studies.
Demonstration of integrating diverse genetic evidence through meta-analysis.
Identification of potential challenges with methods lacking standard error estimation.

Conclusions:

The HapMap Project and associated LD mapping have significantly enhanced the resolution of genetic studies for complex diseases.
Accurate estimation of standard error in meta-analysis is crucial for reliable genetic epidemiology.
Further research is needed to address remaining questions in genetic epidemiology for continued medical contributions.