Nature Reviews Endocrinology
Nature Reviews Endocrinology
5 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

You might also like
Discover & Discuss Important Research

Keeping up-to-date with research can feel impossible, with papers being published faster than you'll ever be able to read them. That's where Researcher comes in: we're simplifying discovery and making important discussions happen. With over 19,000 sources, including peer-reviewed journals, preprints, blogs, universities, podcasts and Live events across 10 research areas, you'll never miss what's important to you. It's like social media, but better. Oh, and we should mention - it's free.

  • Download from Google Play
  • Download from App Store
  • Download from AppInChina

Researcher displays publicly available abstracts and doesn’t host any full article content. If the content is open access, we will direct clicks from the abstracts to the publisher website and display the PDF copy on our platform. Clicks to view the full text will be directed to the publisher website, where only users with subscriptions or access through their institution are able to view the full article.