twas_sim

twas_sim performs simulation and statistical power analysis for transcriptome-wide association studies (TWAS) by integrating expression quantitative trait loci (eQTL) data with genome-wide association study (GWAS) findings to evaluate methods for identifying genes associated with non-coding genetic variants in complex diseases.


Key Features:

  • Simulation Capability: Provides a framework to simulate TWAS scenarios and evaluate the performance of TWAS methodologies across varied genetic architectures and study designs.
  • Power Analysis: Conducts statistical power analyses to assess the ability of TWAS methods to detect associations between genetic variants and gene expression.
  • Scalability: Supports computational scalability to handle large genomic datasets typical in GWAS and eQTL studies.
  • Extensibility: Architecture supports extension to incorporate new TWAS methods or adapt existing approaches.

Scientific Applications:

  • Feasibility Studies: Enables ad hoc simulations to demonstrate the feasibility of different TWAS approaches for methodological development.
  • Method Comparison: Allows comparative evaluation of multiple TWAS methods by simulating their performance under controlled scenarios.
  • Power Assessment: Supports design and planning of studies by estimating required sample sizes and power to detect meaningful gene-expression associations.

Methodology:

Integrates eQTL data with GWAS findings to simulate TWAS scenarios and performs power analyses focused on detection of associations involving non-coding genetic variants.

Topics

Details

Cost:
Free of charge
Tool Type:
command-line tool
Operating Systems:
Mac, Linux, Windows
Programming Languages:
Shell, Python, R
Added:
10/15/2023
Last Updated:
11/24/2024

Operations

Data Inputs & Outputs

Genotyping

Inputs

Outputs

    Publications

    Wang X, Lu Z, Bhattacharya A, Pasaniuc B, Mancuso N. twas_sim, a Python-based tool for simulation and power analysis of transcriptome-wide association analysis. Bioinformatics. 2023;39(5). doi:10.1093/bioinformatics/btad288. PMID:37099718. PMCID:PMC10172036.

    PMID: 37099718
    Funding: - NIH: R01CA258808, R01GM140287, R01HG012133