GBAT: a gene-based association test for robust detection of trans-gene regulation

The observation that disease-associated genetic variants typically reside outside of exons has inspired widespread investigation into the genetic basis of transcriptional regulation. While associations between the mRNA abundance of a gene and its proximal SNPs (cis-eQTLs) are now readily identified,...

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Xuanyao, Mefford, Joel A., Dahl, Andrew, He, Yuan, Subramaniam, Meena, Battle, Alexis, Price, Alkes L., Zaitlen, Noah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444084/
https://www.ncbi.nlm.nih.gov/pubmed/32831138
http://dx.doi.org/10.1186/s13059-020-02120-1
_version_ 1783573736187756544
author Liu, Xuanyao
Mefford, Joel A.
Dahl, Andrew
He, Yuan
Subramaniam, Meena
Battle, Alexis
Price, Alkes L.
Zaitlen, Noah
author_facet Liu, Xuanyao
Mefford, Joel A.
Dahl, Andrew
He, Yuan
Subramaniam, Meena
Battle, Alexis
Price, Alkes L.
Zaitlen, Noah
author_sort Liu, Xuanyao
collection PubMed
description The observation that disease-associated genetic variants typically reside outside of exons has inspired widespread investigation into the genetic basis of transcriptional regulation. While associations between the mRNA abundance of a gene and its proximal SNPs (cis-eQTLs) are now readily identified, identification of high-quality distal associations (trans-eQTLs) has been limited by a heavy multiple testing burden and the proneness to false-positive signals. To address these issues, we develop GBAT, a powerful gene-based pipeline that allows robust detection of high-quality trans-gene regulation signal.
format Online
Article
Text
id pubmed-7444084
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-74440842020-08-26 GBAT: a gene-based association test for robust detection of trans-gene regulation Liu, Xuanyao Mefford, Joel A. Dahl, Andrew He, Yuan Subramaniam, Meena Battle, Alexis Price, Alkes L. Zaitlen, Noah Genome Biol Method The observation that disease-associated genetic variants typically reside outside of exons has inspired widespread investigation into the genetic basis of transcriptional regulation. While associations between the mRNA abundance of a gene and its proximal SNPs (cis-eQTLs) are now readily identified, identification of high-quality distal associations (trans-eQTLs) has been limited by a heavy multiple testing burden and the proneness to false-positive signals. To address these issues, we develop GBAT, a powerful gene-based pipeline that allows robust detection of high-quality trans-gene regulation signal. BioMed Central 2020-08-24 /pmc/articles/PMC7444084/ /pubmed/32831138 http://dx.doi.org/10.1186/s13059-020-02120-1 Text en © The Author(s) 2020 Open AccessThis 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/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Method
Liu, Xuanyao
Mefford, Joel A.
Dahl, Andrew
He, Yuan
Subramaniam, Meena
Battle, Alexis
Price, Alkes L.
Zaitlen, Noah
GBAT: a gene-based association test for robust detection of trans-gene regulation
title GBAT: a gene-based association test for robust detection of trans-gene regulation
title_full GBAT: a gene-based association test for robust detection of trans-gene regulation
title_fullStr GBAT: a gene-based association test for robust detection of trans-gene regulation
title_full_unstemmed GBAT: a gene-based association test for robust detection of trans-gene regulation
title_short GBAT: a gene-based association test for robust detection of trans-gene regulation
title_sort gbat: a gene-based association test for robust detection of trans-gene regulation
topic Method
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444084/
https://www.ncbi.nlm.nih.gov/pubmed/32831138
http://dx.doi.org/10.1186/s13059-020-02120-1
work_keys_str_mv AT liuxuanyao gbatagenebasedassociationtestforrobustdetectionoftransgeneregulation
AT meffordjoela gbatagenebasedassociationtestforrobustdetectionoftransgeneregulation
AT dahlandrew gbatagenebasedassociationtestforrobustdetectionoftransgeneregulation
AT heyuan gbatagenebasedassociationtestforrobustdetectionoftransgeneregulation
AT subramaniammeena gbatagenebasedassociationtestforrobustdetectionoftransgeneregulation
AT battlealexis gbatagenebasedassociationtestforrobustdetectionoftransgeneregulation
AT pricealkesl gbatagenebasedassociationtestforrobustdetectionoftransgeneregulation
AT zaitlennoah gbatagenebasedassociationtestforrobustdetectionoftransgeneregulation

Ejemplares similares