Phenome-wide association studies: a new method for functional genomics in humans
1Departments of Medicine, Pharmacology and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
The Journal of Physiology
|February 24, 2017
Summary
Phenome-wide association studies (PheWAS) link genetic variants to health outcomes using electronic health records. This approach helps discover disease subtypes and aids in drug repurposing for better human trait understanding.
Area of Science:
- Genetics
- Human Physiology
- Biomedical Informatics
Background:
- Investigating gene function often involves model organisms.
- DNA biobanks and comprehensive phenotypic data enable human genetic studies.
- Phenome-wide association studies (PheWAS) leverage curated medical data for unbiased genetic research.
Purpose of the Study:
- To explore the application of phenome-wide association studies (PheWAS) in human subjects.
- To investigate the association between genetic variations and phenotypic consequences.
- To expand the scope of input functions beyond single nucleotide polymorphisms (SNPs).
Main Methods:
- Utilizing DNA biobanks linked with dense phenotypic information.
- Applying the phenome-wide association study (PheWAS) paradigm.
- Analyzing associations between genetic variants (input functions) and phenotypes from electronic health records.
Main Results:
- Phenome-wide association studies (PheWAS) provide an unbiased method to discover gene-phenotype links.
- Single nucleotide polymorphisms (SNPs) are commonly studied input functions.
- Exploring other input functions like SNP sets or exposures is emerging.
Conclusions:
- Phenome-wide association studies (PheWAS) can identify complex disease subsets for targeted therapies.
- This approach supports drug repurposing by revealing novel genotype-phenotype relationships.
- PheWAS advances the understanding of the genetic architecture underlying human traits.
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