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Transcriptome-Wide Association Study (TWAS)

Definition
AI-generated

A TWAS tests association between a trait and genetically predicted gene expression (or other molecular traits) by combining expression prediction models from reference panels with GWAS summary statistics, aggregating signal across cis variants.

Topics
Post-GWAS
Related
TWAS Fine-Mapping Multi-Ancestry Transcriptome-Wide Association Study Colocalization

Why it matters in GWAS

TWAS prioritizes genes whose regulation is consistent with trait association and can implicate mechanisms when individual cis SNPs are sub-genome-wide significant.

Example usage

"FUSION-based TWAS highlighted CST3 in the LDL-associated interval."

TWAS Fine-Mapping Multi-Ancestry Transcriptome-Wide Association Study Colocalization Expression Quantitative Trait Locus (eQTL) Fine-Mapping Single-Cell Expression Quantitative Trait Locus (sc-eQTL) Genotype-Tissue Expression (GTEx) Genome-Wide Association Study (GWAS) GWAS Summary Statistics Linkage Disequilibrium (LD)
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Gusev A, et al. (2016). Integrative approaches for large-scale transcriptome-wide association studies. Nat Genet.
  • GWASTutorial: TWAS (using FUSION).
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