Genome Biology (Aug 2020)

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

  • Xuanyao Liu,
  • Joel A. Mefford,
  • Andrew Dahl,
  • Yuan He,
  • Meena Subramaniam,
  • Alexis Battle,
  • Alkes L. Price,
  • Noah Zaitlen

DOI
https://doi.org/10.1186/s13059-020-02120-1
Journal volume & issue
Vol. 21, no. 1
pp. 1 – 14

Abstract

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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.

Keywords