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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...
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Investigation of Disease Outbreaks

Multistate foodborne outbreaks pose significant public health risks and require meticulous investigation to identify sources and implement control measures. The Centers for Disease Control and Prevention (CDC) utilizes a dynamic seven-step process for these investigations, integrating data from laboratories, interviews, and environmental assessments to protect public health.Outbreak Detection: The detection of multistate outbreaks typically begins with PulseNet, the CDC's national laboratory...
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Strategies for Assessing and Addressing Confounding

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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.
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Related Experiment Video

Updated: May 28, 2026

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

Vision for Exposomics-Scale Investigation: A Heuristic for Exposure-Wide Association Studies (ExWAS).

Chirag J Patel1, Gary W Miller2, Alison A Motsinger-Reif3

  • 1Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts 02115, United States.

Environmental Science & Technology
|May 27, 2026
PubMed
Summary

Exposomics research needs clear standards for discovery. We propose a framework for Exposure-Wide Association Studies (ExWAS) to minimize false discoveries and enhance research power.

Keywords:
architectureexposomeexposome-wide association studyheuristicphenome

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A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
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A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

Related Experiment Videos

Last Updated: May 28, 2026

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

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
05:01

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

Area of Science:

  • Environmental Health Sciences
  • Biomedical Research Methods

Background:

  • Exposomics research, while promising, faces challenges balancing broad screening with the risk of false discoveries.
  • The scientific community requires robust benchmarks for discovery-oriented exposomics research, specifically for Exposure-Wide Association Studies (ExWAS).

Purpose of the Study:

  • To propose a heuristic framework, the 5 I's (Inclusive, Informative, Immense, Integrative, Iterative), to guide the design and execution of Exposure-Wide Association Studies (ExWAS).
  • To differentiate ExWAS from other exposomics approaches and establish criteria for minimizing spurious associations while maximizing discovery potential.

Main Methods:

  • Development of a framework based on five key principles: Inclusive, Informative, Immense, Integrative, and Iterative.
  • Operationalization of these principles as graded thresholds to accommodate diverse cohort sizes and resource levels, enabling participation through federated and meta-analytic designs.

Main Results:

  • The proposed 5 I's framework offers a roadmap for rigorous ExWAS design, mirroring the systematic approach of genomics.
  • The framework aims to minimize false discoveries and preserve the power of exposomics research.

Conclusions:

  • The 5 I's framework provides essential benchmarks for conducting discovery-oriented Exposure-Wide Association Studies (ExWAS).
  • This approach supports the creation of an "Exposome-Phenome Catalog," analogous to the GWAS Catalog, advancing biomedical research.