4 years ago

The impact of rare variation on gene expression across tissues

The impact of rare variation on gene expression across tissues
Michael C. Bassik, Alexis Battle, Ira M. Hall, Amy Li, Benjamin J. Strober, Farhan N. Damani, Gaelen T. Hess, Colby Chiang, Xin Li, Andrea Ganna, Zachary Zappala, Emily K. Tsang, Yungil Kim, Alexandra J. Scott, Joe R. Davis, Stephen B. Montgomery, Jason D. Merker
Our analysis focused on individuals with extremely high or extremely low expression of a particular gene compared with the population, using the GTEx v6p release data, which include RNA-sequencing data for 449 individuals and 44 tissues. We refer to these individuals as gene expression outliers. The GTEx data enable the identification of both single-tissue and multi-tissue expression outliers (Fig. 1a), with the latter defined by consistent extreme expression across many tissues (see Methods). To account for broad environmental and technical confounders, we removed hidden factors estimated by PEER (probabilistic estimation of expression residuals)13 from each tissue before outlier discovery (Extended Data Figs 1, 2 and Supplementary Tables 1, 2).

Publisher URL: http://dx.doi.org/10.1038/nature24267

DOI: 10.1038/nature24267

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