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Updated: Dec 11, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
GBAT: a gene-based association test for robust detection of trans-gene regulation
Xuanyao Liu1,2, Joel A Mefford3, Andrew Dahl3
1Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, MA, USA. xuanyao@uchicago.edu.
Abstract:
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.
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