Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

doi:10.1093/hmg/ddac227

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Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

Human molecular genetics - 27 Jan 2023

Daich Varela Malena, Bellingham James, Motta Fabiana, Jurkute Neringa, Ellingford Jamie M, Quinodoz Mathieu, Oprych Kathryn, Niblock Michael, Janeschitz-Kriegl Lucas, Kaminska Karolina, Cancellieri Francesca, Scholl Hendrik P N, Lenassi Eva, Schiff Elena, Knight Hannah, Black Graeme, Rivolta Carlo, Cheetham Michael E, Michaelides Michel, Mahroo Omar A, Moore Anthony T, Webster Andrew R, Arno Gavin

Abstract excerpt

The purpose of this paper is to identify likely pathogenic non-coding variants in inherited retinal dystrophy (IRD) genes, using genome sequencing (GS). Patients with IRD were recruited to the study and underwent comprehensive ophthalmological evaluation and GS. The results of GS were investigated through virtual gene panel analysis, and plausible pathogenic variants and clinical phenotype evaluated by the...

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PMID: 36084042
DOI: 10.1093/hmg/ddac227
PMCID: PMC9896476

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