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twas_sim, a Python-based tool for simulation and power analysis of transcriptome-wide association analysis

SUMMARY: 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...

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Detalles Bibliográficos
Autores principales: Wang, Xinran, Lu, Zeyun, Bhattacharya, Arjun, Pasaniuc, Bogdan, Mancuso, Nicholas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172036/
https://www.ncbi.nlm.nih.gov/pubmed/37099718
http://dx.doi.org/10.1093/bioinformatics/btad288
Descripción
Sumario:SUMMARY: 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. AVAILABILITY AND IMPLEMENTATION: Software and documentation are available at https://github.com/mancusolab/twas_sim.