GBAT: a gene-based association test for robust detection of trans-gene regulation
Xuanyao Liu, Joel Mefford, Andrew Dahl, Yuan He, Meena Subramaniam, Alexis Battle, Alkes L. Price, Noah Zaitlen
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.
Topics & Concepts
BiologyGeneGeneticsHuman geneticsComputational biologyExonGenetic associationIdentification (biology)Single-nucleotide polymorphismRegulation of gene expressionGenotypeBotanyRNA Research and SplicingGenomics and Chromatin DynamicsRNA and protein synthesis mechanisms