Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

Abstract Background 5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined approach of a comprehensive prioritization strategy and functional ass...

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Bibliographic Details

Published in:	Genome Medicine
Main Authors:	Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Format:	Article
Language:	English
Published:	BMC 2024-01-01
Subjects:	5’untranslated region (5’UTR) Upstream open reading frame (uORF) Non-coding variation Whole genome sequencing (WGS) Whole exome sequencing (WES) In silico prioritization
Online Access:	https://doi.org/10.1186/s13073-023-01277-1