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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, UKManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UKManchester 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, UKMedical 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, UKDepartment 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, UKManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UKManchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK PubMed articlesGoogle scholar articles
  • Michel Michaelides UCL Institute of Ophthalmology, University College London, London, UKDepartment of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Andrew Webster UCL Institute of Ophthalmology, University College London, London, UKDepartment 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, UKManchester 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, UKGenomics 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

Publication history

  • Received May 7, 2022
  • Accepted December 16, 2022
  • First published January 20, 2023.

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