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Original Article
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Authors

  • Jamie M Ellingford Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester, UKDivision of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  • Bradley Horn Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester, UK PubMed articlesGoogle scholar articles
  • Christopher Campbell Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester, UK PubMed articlesGoogle scholar articles
  • Gavin Arno Department of Genetics, UCL Institute of Ophthalmology, London, UK PubMed articlesGoogle scholar articles
  • Stephanie Barton Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester, UK PubMed articlesGoogle scholar articles
  • Catriona Tate Congenica, Wellcome Genome Campus, Hinxton, Cambridge, UK PubMed articlesGoogle scholar articles
  • Sanjeev Bhaskar Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester, UK PubMed articlesGoogle scholar articles
  • Panagiotis I Sergouniotis Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester, UK PubMed articlesGoogle scholar articles
  • Rachel L Taylor Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester, UKDivision of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  • Keren J Carss Department of Haematology, University of Cambridge NHS Blood and Transplant Centre, Cambridge, UKDepartment of NIHR BioResource – Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK PubMed articlesGoogle scholar articles
  • Lucy F L Raymond Department of NIHR BioResource – Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UKDepartment of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK PubMed articlesGoogle scholar articles
  • Michel Michaelides Department of Genetics, UCL Institute of Ophthalmology, London, UKMoorfields Eye Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Simon C Ramsden Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester, UK PubMed articlesGoogle scholar articles
  • Andrew R Webster Department of Genetics, UCL Institute of Ophthalmology, London, UKMoorfields Eye Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Graeme C M Black Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester, UKDivision of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Graeme C M Black, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester M13 9WL, UK; graeme.black{at}manchester.ac.uk
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Citation

Ellingford JM, Horn B, Campbell C, et al
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
Journal of Medical Genetics Published Online First: 26 October 2017. doi: 10.1136/jmedgenet-2017-104791

Publication history

  • Received May 10, 2017
  • Revised September 20, 2017
  • Accepted October 9, 2017
  • First published October 26, 2017.

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/