Transcriptome‐Wide Association Studies (TWAS): Methodologies, Applications, and Challenges

Author:

Evans Patrick1,Nagai Taylor1,Konkashbaev Anuar1,Zhou Dan1,Knapik Ela W.1,Gamazon Eric R.1ORCID

Affiliation:

1. Division of Genetic Medicine and Vanderbilt Genetics Institute Vanderbilt University Medical Center Nashville Tennessee

Abstract

AbstractTranscriptome‐wide association study (TWAS) methodologies aim to identify genetic effects on phenotypes through the mediation of gene transcription. In TWAS, in silico models of gene expression are trained as functions of genetic variants and then applied to genome‐wide association study (GWAS) data. This post‐GWAS analysis identifies gene‐trait associations with high interpretability, enabling follow‐up functional genomics studies and the development of genetics‐anchored resources. We provide an overview of commonly used TWAS approaches, their advantages and limitations, and some widely used applications. © 2024 Wiley Periodicals LLC.

Funder

National Institutes of Health

National Human Genome Research Institute

National Institute on Aging

National Institute of General Medical Sciences

National Institute of Mental Health

Publisher

Wiley

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