A scalable unified framework of total and allele-specific counts for cis-QTL, fine-mapping, and prediction

Yanyu Liang (), François Aguet, Alvaro N. Barbeira, Kristin Ardlie and Hae Kyung Im ()
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Yanyu Liang: Section of Genetic Medicine, The University of Chicago
François Aguet: The Broad Institute of MIT and Harvard
Alvaro N. Barbeira: Section of Genetic Medicine, The University of Chicago
Kristin Ardlie: The Broad Institute of MIT and Harvard
Hae Kyung Im: Section of Genetic Medicine, The University of Chicago

Nature Communications, 2021, vol. 12, issue 1, 1-11

Abstract: Abstract Genetic studies of the transcriptome help bridge the gap between genetic variation and phenotypes. To maximize the potential of such studies, efficient methods to identify expression quantitative trait loci (eQTLs) and perform fine-mapping and genetic prediction of gene expression traits are needed. Current methods that leverage both total read counts and allele-specific expression to identify eQTLs are generally computationally intractable for large transcriptomic studies. Here, we describe a unified framework that addresses these needs and is scalable to thousands of samples. Using simulations and data from GTEx, we demonstrate its calibration and performance. For example, mixQTL shows a power gain equivalent to a 29% increase in sample size for genes with sufficient allele-specific read coverage. To showcase the potential of mixQTL, we apply it to 49 GTEx tissues and find 20% additional eQTLs (FDR

Date: 2021
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DOI: 10.1038/s41467-021-21592-8

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