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Related Concept Videos

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...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Single Nucleotide Polymorphisms-SNPs01:05

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,...
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...
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...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

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Related Experiment Video

Updated: Jun 20, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

[Genome-wide association studies].

Bjarke Feenstra1, Heather Allison Boyd, Mads Melbye

  • 1Afdeling for Epidemiologisk Forskning, Statens Serum Institut, Artillerivej 5, DK-2300 København S. fee@ssi.dk

Ugeskrift for Laeger
|October 23, 2008
PubMed
Summary
This summary is machine-generated.

Genome-wide association studies are rapidly identifying genetic links to common diseases. Future research will focus on understanding these genotype-phenotype mechanisms for better health outcomes.

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Last Updated: Jun 20, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Area of Science:

  • Genetics and Genomics
  • Disease Association Studies

Context:

  • Recent advancements in genome-wide association (GWA) studies.
  • Availability of comprehensive human genetic variation data from the HapMap project.
  • High-throughput genotyping microarrays capable of assessing up to 1 million single nucleotide polymorphisms (SNPs).

Purpose:

  • To highlight the recent surge in discoveries linking genetic variants to common diseases.
  • To outline the foundational resources enabling these discoveries.
  • To emphasize the critical next steps in understanding the biological mechanisms.

Summary:

  • Genome-wide association studies have identified numerous robust associations between genetic variants and common diseases.
  • This progress is underpinned by the HapMap project's genetic variation catalog and advanced genotyping microarrays.
  • The focus is shifting towards elucidating the mechanisms driving these genotype-phenotype relationships.

Impact:

  • Facilitating a deeper understanding of the genetic basis of common diseases.
  • Paving the way for improved disease prevention strategies.
  • Enabling the development of novel diagnostic and therapeutic approaches.