Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Upstream open reading frames (uORFs), located in 5’ untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically assess the deleteriousness of variants creating or disr...

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Bibliographic Details
Main Authors: Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware
Format: Article
Language:English
Published: Nature Publishing Group 2020-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-019-10717-9

Internet

https://doi.org/10.1038/s41467-019-10717-9

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