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Related Concept Videos

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...
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...
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...
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...
DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

On track? Using the Human Genome Epidemiology Roadmap.

Julian Little1, S Hawken

  • 1Department of Epidemiology and Community Medicine, University of Ottawa, Ottawa, Ont., Canada. jlittle@uottawa.ca

Public Health Genomics
|April 17, 2010
PubMed
Summary

This study evaluates the value of genomic information and genetic association studies. It highlights the need for a roadmap, outlining steps developed by the Human Genome Epidemiology Network (HuGENet).

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Area of Science:

  • Genomic epidemiology
  • Genetic association studies

Background:

  • Assessing the utility of genomic information in research and clinical practice is crucial.
  • Genetic association studies are a key source of evidence for genomic information's value.

Purpose of the Study:

  • To evaluate the potential value of genomic information.
  • To comment on the nature of evidence, particularly from genetic association studies.
  • To outline a roadmap for advancing genomic epidemiology.

Main Methods:

  • Review of existing evidence on the value of genomic information.
  • Analysis of genetic association study methodologies.
  • Development and discussion of a roadmap by the Human Genome Epidemiology Network (HuGENet).

Main Results:

  • Genomic information holds significant potential value.
  • Evidence quality from genetic association studies varies and requires careful evaluation.
  • A structured roadmap is necessary to guide progress in genomic epidemiology.

Conclusions:

  • Further development and implementation of the HuGENet roadmap are essential.
  • Continued research and critical appraisal of evidence are needed to maximize the value of genomic information.
  • Future directions involve refining methodologies and integrating genomic data effectively.