| Identifier |
20200310_nanos_sciplatform3_02-pdf |
| Title |
The 100,000 Genomes Project - Uncovering Pathogenic Variants in Inherited Optic Neuropathies with Whole-Genome Sequencing (PDF) |
| Creator |
Neringa Jurkute; Gavin Arno; Amy Slater; Nikolas Pontikos; Marcela Votruba; Savita Nutan; Andrew Webster; Patrick Yu-Wai-Man |
| Affiliation |
(NJ) NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL IoO, London, United Kingdom of Great Britain and Northern Ireland; (GA) (NP) (AW) Moorfields Eye Hospital and UCL IoO, London, United Kingdom of Great Britain and Northern Ireland; (AS) Royal Brompton and Harefield NHS Foundation Trust, London, United Kingdom of Great Britain and Northern Ireland; (MV) School of Optometry and VisionSciences, Cardiff University, Cardiff, United Kingdom of Great Britain and Northern Ireland; (SN) Great Ormond Street Hospital, London, United Kingdom of Great Britain and Northern Ireland; (PYWM) Moorfields Eye Hospital, UCLIoO, University of Cambridge, Cambridge, United Kingdom of Great Britain and Northern Ireland |
| Subject |
Genetic Disease; Optic Neuropathy |
| Description |
Inherited optic neuropathies (ION) are a genetically heterogeneous group of disorders characterised by progressive and irreversible loss of retinal ganglion cells. Reaching a confirmed molecular diagnosis can be challenging given the number of disease-associated genes that have been identified within both the nuclear and mitochondrial genomes. In addition, routine genetic testing will also not identify novel causes of optic atrophy. In this study, we applied whole-genome sequencing (WGS) to investigate a cohort of patients with a clinical diagnosis of ION. |
| Date |
2020-03 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2020 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2020: Scientific Platform Session III |
| Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6qp1hdw |
| Setname |
ehsl_novel_nam |
| ID |
1543310 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6qp1hdw |
