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TWAS Fine-Mapping

Definition
AI-generated

TWAS fine-mapping prioritizes causal genes at a locus by modeling which genes’ genetically predicted expression is associated with the trait while accounting for LD and, in advanced methods, horizontal pleiotropy or conditioning across multiple genes in the region.

Topics
Post-GWAS
Synonyms
Transcriptome-wide fine-mapping
Related
Colocalization Expression Quantitative Trait Locus (eQTL) Fine-Mapping

Why it matters in GWAS

SNP-level fine-mapping can leave multiple coding and regulatory candidates; TWAS fine-mapping narrows effector genes consistent with eQTL architecture, complementing colocalization and single-cell context.

Example usage

"We applied a SuSiE-style TWAS fine-mapping model to rank genes in the MHC interval for autoimmune risk."

Colocalization Expression Quantitative Trait Locus (eQTL) Fine-Mapping Multi-Ancestry Transcriptome-Wide Association Study SuSiE Transcriptome-Wide Association Study (TWAS)
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

  • Liu L, et al. (2024). Conditional transcriptome-wide association study for fine-mapping candidate causal genes. Nat Genet.
  • Zhao S, et al. (2024). Adjusting for genetic confounders in transcriptome-wide association studies improves discovery of risk genes of complex traits. Nat Genet.
  • Li Z, Zhou X. (2025). Towards improved fine-mapping of candidate causal variants. Nat Rev Genet. https://doi.org/10.1038/s41576-025-00869-4
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