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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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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. |
format | Online Article Text |
id | pubmed-10172036 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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