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Related Experiment Video

Updated: Feb 13, 2026

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

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

Published on: July 27, 2021

Current Scope and Challenges in Phenome-Wide Association Studies.

Anurag Verma^1,2, Marylyn D Ritchie^1,2,3

¹Biomedical and Translational Informatics Institute, Geisinger Health System, Danville, PA.

Current Epidemiology Reports

|March 17, 2018

Summary

Phenome-wide association studies (PheWAS) identify genetic variant links to multiple diseases. This approach, using electronic health records, reveals genetic associations but faces interpretation challenges.

Keywords:

Electronic health record (EHR)International Classification of Disease Codes (ICD)Phenome-Wide Association Studies (PheWAS)Phenotyping

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Last Updated: Feb 13, 2026

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

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Published on: July 27, 2021

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

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Published on: July 1, 2020

Using SCOPE to Identify Potential Regulatory Motifs in Coregulated Genes

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Published on: May 31, 2011

Area of Science:

Genetics
Genomic Medicine
Biostatistics

Background:

Investigating genotype-phenotype relationships is crucial for understanding genetic disease contributions.
Phenome-wide association studies (PheWAS) offer a high-throughput method to simultaneously explore genetic variants and numerous diseases/traits.

Purpose of the Study:

To review the value of PheWAS in identifying genetic associations across multiple phenotypes.
To discuss methodological issues and interpretation challenges associated with current PheWAS applications.

Main Methods:

Review of existing literature and applications of PheWAS.
Analysis of data from electronic health records, epidemiological studies, and clinical trials.

Main Results:

PheWAS have established a framework for discovering novel associations between genetic loci and various diseases.
Effective application of PheWAS is demonstrated using diverse phenotype data sources.

Conclusions:

PheWAS excel at linking single genetic variants to multiple phenotypes, highlighting shared genetic underpinnings.
Addressing current methodological and interpretational challenges is essential for enhancing the robustness of PheWAS findings.