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Open AccessArticle

Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland

1
The School of Genetics & Microbiology, Trinity College Dublin, Dublin D02 VF25, Ireland
2
The Research Foundation, Royal Victoria Eye and Ear Hospital, Dublin D02 XK51, Ireland
3
Clinical Genetics Centre for Ophthalmology, The Mater Misericordiae University Hospital, Dublin D07 R2WY, Ireland
4
Department of Ophthalmology, The Royal Victoria Hospital, Belfast BT12 6BA, Northern Ireland, UK
5
Centre for Experimental Medicine, Queen’s University Belfast, Belfast BT7 1NN, Northern Ireland, UK
*
Author to whom correspondence should be addressed.
Genes 2020, 11(1), 105; https://doi.org/10.3390/genes11010105 (registering DOI)
Received: 16 November 2019 / Revised: 13 December 2019 / Accepted: 13 January 2020 / Published: 16 January 2020
(This article belongs to the Special Issue Recent Advances in Inherited Eye Disease)
The Irish national registry for inherited retinal degenerations (Target 5000) is a clinical and scientific program to identify individuals in Ireland with inherited retinal disorders and to attempt to ascertain the genetic cause underlying the disease pathology. Potential participants first undergo a clinical assessment, which includes clinical history and analysis with multimodal retinal imaging, electrophysiology, and visual field testing. If suitable for recruitment, a sample is taken and used for genetic analysis. Genetic analysis is conducted by use of a retinal gene panel target capture sequencing approach. With over 1000 participants from 710 pedigrees now screened, there is a positive candidate variant detection rate of approximately 70% (495/710). Where an autosomal recessive inheritance pattern is observed, an additional 9% (64/710) of probands have tested positive for a single candidate variant. Many novel variants have also been detected as part of this endeavor. The target capture approach is an economic and effective means of screening patients with inherited retinal disorders. Despite the advances in sequencing technology and the ever-decreasing associated processing costs, target capture remains an attractive option as the data produced is easily processed, analyzed, and stored compared to more comprehensive methods. However, with decreasing costs of whole genome and whole exome sequencing, the focus will likely move towards these methods for more comprehensive data generation.
Keywords: inherited eye disease; ophthalmic genetics; genomics; next generation sequencing; retinopathy; rare variants; novel variants inherited eye disease; ophthalmic genetics; genomics; next generation sequencing; retinopathy; rare variants; novel variants
MDPI and ACS Style

Whelan, L.; Dockery, A.; Wynne, N.; Zhu, J.; Stephenson, K.; Silvestri, G.; Turner, J.; O’Byrne, J.J.; Carrigan, M.; Humphries, P.; Keegan, D.; Kenna, P.F.; Farrar, G.J. Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland. Genes 2020, 11, 105.

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