Work

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

Year: 2020

Type: article

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.

Source: Genome biology

DOI: 10.1186/s13059-020-02120-1

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

Institutions: Harvard University, University of Chicago, University of California, Los Angeles, Johns Hopkins University

Language: English

Topic: Genetic Associations and Epidemiology

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $4,990

Funders: National Institute of Mental Health, National Human Genome Research Institute, National Cancer Institute, National Institute of General Medical Sciences

Awards: (PQ3) A functional genomic approach to identification and interpretation of germline-tumor genetic interactions, G3906337196, Leveraging functional data to predict disease risk in multi-ethnic populations, Statistical Methods to Study the Genetic Basis and Mechanisms of Trans Gene Regulation, Integrating case-control transcriptomic and genetic data in admixed individuals to identify disease genes for schizophrenia and bipolar disorder

OpenAlex ID: W3080190508

FWCI: 4.391

Cites: 51

Cited by: 45

Related to: 10