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

Alfredo Dueñas ReyMarta Del Pozo ValeroManon BouckaertKatherine A WoodFilip Van den BroeckMalena Daich VarelaHuw B ThomasMattias Van HeetveldeMarieke De BruyneStijn Van de SompeleMiriam BauwensHanne LenaertsQuinten MahieuDragana Josifovanull nullCarlo RivoltaRaymond T O'KeefeJamie EllingfordAndrew R WebsterGavin ArnoCarmen AyusoJulie De ZaeytijdBart P LeroyElfride De BaereFrauke Coppieters

Published in: Genome medicine (2024)

This study demonstrates the importance of 5'UTR variants implicated in IRDs and provides a systematic approach for 5'UTR annotation and validation that is applicable to other inherited diseases.

Keyphrases

copy number
diabetic retinopathy
gene expression
rna seq