Transcriptome-wide association studies: recent advances in methods, applications and available databases

Genome-wide association study has identified fruitful variants impacting heritable traits. Nevertheless, identifying critical genes underlying those significant variants has been a great task. Transcriptome-wide association study (TWAS) is an instrumental post-analysis to detect significant gene-tra...

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Autores principales: Mai, Jialin, Lu, Mingming, Gao, Qianwen, Zeng, Jingyao, Xiao, Jingfa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474133/
https://www.ncbi.nlm.nih.gov/pubmed/37658226
http://dx.doi.org/10.1038/s42003-023-05279-y
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author Mai, Jialin
Lu, Mingming
Gao, Qianwen
Zeng, Jingyao
Xiao, Jingfa
author_facet Mai, Jialin
Lu, Mingming
Gao, Qianwen
Zeng, Jingyao
Xiao, Jingfa
author_sort Mai, Jialin
collection PubMed
description Genome-wide association study has identified fruitful variants impacting heritable traits. Nevertheless, identifying critical genes underlying those significant variants has been a great task. Transcriptome-wide association study (TWAS) is an instrumental post-analysis to detect significant gene-trait associations focusing on modeling transcription-level regulations, which has made numerous progresses in recent years. Leveraging from expression quantitative loci (eQTL) regulation information, TWAS has advantages in detecting functioning genes regulated by disease-associated variants, thus providing insight into mechanisms of diseases and other phenotypes. Considering its vast potential, this review article comprehensively summarizes TWAS, including the methodology, applications and available resources.
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spelling pubmed-104741332023-09-03 Transcriptome-wide association studies: recent advances in methods, applications and available databases Mai, Jialin Lu, Mingming Gao, Qianwen Zeng, Jingyao Xiao, Jingfa Commun Biol Review Article Genome-wide association study has identified fruitful variants impacting heritable traits. Nevertheless, identifying critical genes underlying those significant variants has been a great task. Transcriptome-wide association study (TWAS) is an instrumental post-analysis to detect significant gene-trait associations focusing on modeling transcription-level regulations, which has made numerous progresses in recent years. Leveraging from expression quantitative loci (eQTL) regulation information, TWAS has advantages in detecting functioning genes regulated by disease-associated variants, thus providing insight into mechanisms of diseases and other phenotypes. Considering its vast potential, this review article comprehensively summarizes TWAS, including the methodology, applications and available resources. Nature Publishing Group UK 2023-09-01 /pmc/articles/PMC10474133/ /pubmed/37658226 http://dx.doi.org/10.1038/s42003-023-05279-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Review Article
Mai, Jialin
Lu, Mingming
Gao, Qianwen
Zeng, Jingyao
Xiao, Jingfa
Transcriptome-wide association studies: recent advances in methods, applications and available databases
title Transcriptome-wide association studies: recent advances in methods, applications and available databases
title_full Transcriptome-wide association studies: recent advances in methods, applications and available databases
title_fullStr Transcriptome-wide association studies: recent advances in methods, applications and available databases
title_full_unstemmed Transcriptome-wide association studies: recent advances in methods, applications and available databases
title_short Transcriptome-wide association studies: recent advances in methods, applications and available databases
title_sort transcriptome-wide association studies: recent advances in methods, applications and available databases
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474133/
https://www.ncbi.nlm.nih.gov/pubmed/37658226
http://dx.doi.org/10.1038/s42003-023-05279-y
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