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Paper Details

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet
298
2017
CHM, GC-rich regions, Inherited Retinal Disease, Inherited retinal disease, Rare Diseases, choroideremia, indels, inherited retinal disease, non-coding regulatory regions, single-nucleotide variants, visual impairment
Author NameAffiliation
Gavin ArnoCambridge University Hospitals NHS Foundation Trust, UK UCL Institute of Ophthalmology, University College London, UK Moorfields Eye Hospital
Jonathan StephensUniversity of Cambridge, UK NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Karyn MegyUniversity of Cambridge, UK NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Detelina GrozevaCambridge University Hospitals NHS Foundation Trust, Cambridge Institute for Medical Research, University of Cambridge
Eleanor DewhurstUniversity of Cambridge, UK NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Christopher J PenkettUniversity of Cambridge, UK NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Kathleen StirrupsUniversity of Cambridge, UK NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Kathleen StirrupsUniversity of Cambridge, UK NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Dragana JosifovaCambridge University Hospitals NHS Foundation Trust, UK Clinical Genetics Department, Guy's Hospital
Maria Bitner-GlindziczCambridge University Hospitals NHS Foundation Trust, UK UCL Great Ormond Street Institute of Child Health
Richard H ScottCambridge University Hospitals NHS Foundation Trust, Great Ormond Street Hospital
Jane A HurstCambridge University Hospitals NHS Foundation Trust, UK Great Ormond Street Hospital for Children
Willem H OuwehandUniversity of Cambridge, UK NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Willem H OuwehandUniversity of Cambridge, UK NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Michel MichaelidesCambridge University Hospitals NHS Foundation Trust, UK UCL Institute of Ophthalmology, University College London, UK Moorfields Eye Hospital
Anthony T MooreCambridge University Hospitals NHS Foundation Trust, UK UCL Institute of Ophthalmology, University College London, UK Moorfields Eye Hospital, UCSF School of Medicine, University of California San Francisco
Andrew R WebsterCambridge University Hospitals NHS Foundation Trust, UK UCL Institute of Ophthalmology, University College London, UK Moorfields Eye Hospital
Frances Lucy RaymondCambridge University Hospitals NHS Foundation Trust, Cambridge Institute for Medical Research, University of Cambridge
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