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Dockery A, Stephenson K, Keegan D, et al. Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations. Genes (Basel). 2017;8(11)doi: 10.3390/genes8110304.
Dockery, A., Stephenson, K., Keegan, D., Wynne, N., Silvestri, G., Humphries, P., Kenna, P. F., Carrigan, M., & Farrar, G. J. (2017). Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations. Genes, 8(11), . https://doi.org/10.3390/genes8110304
Dockery, Adrian, et al. "Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations." Genes vol. 8,11 (2017). doi: https://doi.org/10.3390/genes8110304
Dockery A, Stephenson K, Keegan D, Wynne N, Silvestri G, Humphries P, Kenna PF, Carrigan M, Farrar GJ. Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations. Genes (Basel). 2017 Nov 03;8(11). doi: 10.3390/genes8110304. PMID: 29099798; PMCID: PMC5704217.
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Genes (Basel). 2017 Nov 03;8(11). doi: 10.3390/genes8110304.

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.

Genes

Adrian Dockery, Kirk Stephenson, David Keegan, Niamh Wynne, Giuliana Silvestri, Peter Humphries, Paul F Kenna, Matthew Carrigan, G Jane Farrar

Affiliations

  1. The School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland. [email protected].
  2. The Mater Misericordiae University Hospital, Dublin 7, Ireland. [email protected].
  3. The Mater Misericordiae University Hospital, Dublin 7, Ireland. [email protected].
  4. The Research Foundation, Royal Victoria Eye and Ear Hospital, Dublin 2, Ireland. [email protected].
  5. Department of Ophthalmology, The Royal Victoria Hospital, Belfast BT12 6BA, Northern Ireland, UK. [email protected].
  6. Centre for Experimental Medicine, Queen's University Belfast, Belfast BT7 1NN, Northern Ireland, UK. [email protected].
  7. The School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland. [email protected].
  8. The School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland. [email protected].
  9. The Research Foundation, Royal Victoria Eye and Ear Hospital, Dublin 2, Ireland. [email protected].
  10. The School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland. [email protected].
  11. The School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland. [email protected].

PMID: 29099798 PMCID: PMC5704217 DOI: 10.3390/genes8110304

Abstract

There are an estimated 5000 people in Ireland who currently have an inherited retinal degeneration (IRD). It is the goal of this study, through genetic diagnosis, to better enable these 5000 individuals to obtain a clearer understanding of their condition and improved access to potentially applicable therapies. Here we show the current findings of a target capture next-generation sequencing study of over 750 patients from over 520 pedigrees currently situated in Ireland. We also demonstrate how processes can be implemented to retrospectively analyse patient datasets for the detection of structural variants in previously obtained sequencing reads. Pathogenic or likely pathogenic mutations were detected in 68% of pedigrees tested. We report nearly 30 novel mutations including three large structural variants. The population statistics related to our findings are presented by condition and credited to their respective candidate gene mutations. Rediagnosis rates of clinical phenotypes after genotyping are discussed. Possible causes of failure to detect a candidate mutation are evaluated. Future elements of this project, with a specific emphasis on structural variants and non-coding pathogenic variants, are expected to increase detection rates further and thereby produce an even more comprehensive representation of the genetic landscape of IRDs in Ireland.

Keywords: genetics; genomics; ophthalmology; retina; retinitis pigmentosa

Conflict of interest statement

The authors declare no conflict of interest.

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