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Diagnostics
Original research
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

Authors

  • Eva Lenassi Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK PubMed articlesGoogle scholar articles
  • Ana Carvalho MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK Medical Genetic Unit, Pediatric Hospital, Coimbra Hospital and Universitary Centre (CHUC), Coimbra, Portugal PubMed articlesGoogle scholar articles
  • Anja Thormann European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK PubMed articlesGoogle scholar articles
  • Liam Abrahams Genomics England Ltd, London, UK PubMed articlesGoogle scholar articles
  • Gavin Arno UCL Institute of Ophthalmology, University College London, London, UK Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Tracy Fletcher Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK PubMed articlesGoogle scholar articles
  • Claire Hardcastle Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK PubMed articlesGoogle scholar articles
  • Javier Lopez Genomics England Ltd, London, UK PubMed articlesGoogle scholar articles
  • Sarah E Hunt European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK PubMed articlesGoogle scholar articles
  • Patrick Short Sano Genetics Ltd, Cambridge, UK PubMed articlesGoogle scholar articles
  • Panagiotis I Sergouniotis Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK PubMed articlesGoogle scholar articles
  • Michel Michaelides UCL Institute of Ophthalmology, University College London, London, UK Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Andrew Webster UCL Institute of Ophthalmology, University College London, London, UK Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Fiona Cunningham European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK PubMed articlesGoogle scholar articles
  • Simon C Ramsden Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK PubMed articlesGoogle scholar articles
  • Dalia Kasperaviciute Genomics England Ltd, London, UK PubMed articlesGoogle scholar articles
  • David R Fitzpatrick MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK PubMed articlesGoogle scholar articles
  • Genomics England Research Consortium
    Google scholar articles
  • Graeme C Black Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK PubMed articlesGoogle scholar articles
  • Jamie M Ellingford Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK Genomics England Ltd, London, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Jamie M Ellingford, The University of Manchester, Manchester M13 9WL, Manchester, UK; jamie.ellingford{at}manchester.ac.uk
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Citation

Lenassi E, Carvalho A, Thormann A, et al
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
Journal of Medical Genetics 2023;60:810-818.

Publication history

  • Received May 7, 2022
  • Accepted December 16, 2022
  • First published January 20, 2023.
Online issue publication 
July 21, 2023

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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.