GTEx findings reveal genetic regulatory variation across tissues and cell types

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The multi-institutional Genotype-Tissue Expression (GTEx) Consortium, in a final-phase initiative co-led by Tuuli Lappalainen, Ph.D., Core Faculty Member at the New York Genome Center, has published its final set of studies. The new research presents a comprehensive atlas that maps how genetic variants affect gene regulation and how these cellular changes contribute to genetic risk for both common and rare diseases and traits. The set of 15 papers, the culmination of a 10-year effort funded by the National Institutes of Health, were published today in Science and other journals.
Dr. Lappalainen, who holds a joint appointment as Associate Professor in the Department of Systems Biology at Columbia University, is the last author of the main paper published in Science, which completes the GTEx project’s work following earlier-stage analyses published in 2015 and 2017. In the new paper, the GTEx Consortium provides a deep survey into tens of thousands of regulatory variants, based on the GTEx version 8 dataset, which includes 15,201 RNA-sequencing samples from 49 tissues of 838 post-mortem donors and whole genome sequencing data of each donor. Dr. Lappalainen co-led the work with François Aguet, Ph.D., and Kristin Ardlie, Ph.D., from the Broad Institute of MIT and Harvard.

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