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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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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
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author Wang, Xinran
Lu, Zeyun
Bhattacharya, Arjun
Pasaniuc, Bogdan
Mancuso, Nicholas
author_facet Wang, Xinran
Lu, Zeyun
Bhattacharya, Arjun
Pasaniuc, Bogdan
Mancuso, Nicholas
author_sort Wang, Xinran
collection PubMed
description 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.
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spelling pubmed-101720362023-05-12 twas_sim, a Python-based tool for simulation and power analysis of transcriptome-wide association analysis Wang, Xinran Lu, Zeyun Bhattacharya, Arjun Pasaniuc, Bogdan Mancuso, Nicholas Bioinformatics Applications Note 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. Oxford University Press 2023-04-26 /pmc/articles/PMC10172036/ /pubmed/37099718 http://dx.doi.org/10.1093/bioinformatics/btad288 Text en © The Author(s) 2023. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Note
Wang, Xinran
Lu, Zeyun
Bhattacharya, Arjun
Pasaniuc, Bogdan
Mancuso, Nicholas
twas_sim, a Python-based tool for simulation and power analysis of transcriptome-wide association analysis
title twas_sim, a Python-based tool for simulation and power analysis of transcriptome-wide association analysis
title_full twas_sim, a Python-based tool for simulation and power analysis of transcriptome-wide association analysis
title_fullStr twas_sim, a Python-based tool for simulation and power analysis of transcriptome-wide association analysis
title_full_unstemmed twas_sim, a Python-based tool for simulation and power analysis of transcriptome-wide association analysis
title_short twas_sim, a Python-based tool for simulation and power analysis of transcriptome-wide association analysis
title_sort twas_sim, a python-based tool for simulation and power analysis of transcriptome-wide association analysis
topic Applications Note
url 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
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