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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...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Genome Annotation and Assembly03:36

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.
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Related Experiment Video

Updated: Jun 4, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

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Published on: November 19, 2013

Shared Genomics: Developing an accessible integrated analysis platform for Genome-Wide Association Studies.

David Hoyle1, Mark Delderfield, Lee Kitching

  • 1North-West Institute for BioHealth Informatics (NIBHI), University of Manchester, Manchester, UK.

Summit on Translational Bioinformatics
|February 25, 2011
PubMed
Summary

Genome-wide association studies identify genomic locations linked to diseases. This work introduces an integrated Workbench for parallelized statistical genetics analysis and biological annotation, aiding clinical researchers.

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Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Genome-wide association studies (GWAS) are increasingly utilized to detect genomic loci associated with various disease conditions.
  • The large scale of genomic data necessitates computationally and bioinformatically intensive analysis methods.

Purpose of the Study:

  • To present an integrated Workbench designed for clinical researchers.
  • To provide user-friendly access to parallelized statistical genetics analysis tools.
  • To biologically annotate statistical genetics results using existing bioinformatics workflows.

Main Methods:

  • Development of an integrated Workbench platform.
  • Integration of parallelized statistical genetics analysis codes.
  • Reuse of existing Taverna workflows for biological annotation of results.

Main Results:

  • The Workbench offers accessible parallelized analysis for large genomic datasets.
  • Biological annotation of statistical genetics findings is facilitated through reusable workflows.
  • The system supports clinical researchers in interpreting GWAS results.

Conclusions:

  • The integrated Workbench enhances the analysis of genome-wide association studies.
  • User-friendly access to advanced computational tools aids clinical research.
  • Combining statistical genetics with bioinformatics annotation improves disease gene discovery.