twas_sim, a Python-based tool for simulation and power analysis of transcriptome-wide association analysis.
other · Level V
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- Record sourced from PubMed, PMID 37099718.
- Also identified by DOI 10.1093/bioinformatics/btad288 and PMC identifier 10172036.
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Abstract
Genome-wide association studies (GWASs) have identified numerous genetic variants associated with complex disease risk; however, most of these associations are non-coding, complicating identifying their proximal target gene. Transcriptome-wide association studies (TWASs) have been proposed to mitigate this gap by integrating expression quantitative trait loci (eQTL) data with GWAS data. Numerous methodological advancements have been made for TWAS, yet each approach requires ad hoc simulations to demonstrate feasibility. Here, we present twas_sim, a computationally scalable and easily extendable tool for simplified performance evaluation and power analysis for TWAS methods. Software and documentation are available at https://github.com/mancusolab/twas_sim.
Medical subject headings
- Transcriptome
- Genome-Wide Association Study