Paper Details

Paper Title

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

Paper Journal Title

J Med Genet

Paper Citation Count

Paper Publication Year

2023

Bio Mention

EyeG2P, genomic variants, inherited ophthalmic conditions, inherited ophthalmic disorders, patient

Mesh Descriptor

Author Name	Affiliation
Gavin Arno	UCL Institute of Ophthalmology, University College London
Gavin Arno	Moorfields Eye Hospital NHS Foundation Trust
Javier Lopez	Genomics England Ltd
Sarah E Hunt	European Bioinformatics Institute
Sarah E Hunt	European Bioinformatics Institute
Panagiotis I Sergouniotis	University of Manchester
Panagiotis I Sergouniotis	St Mary's Hospital, Manchester University NHS Foundation Trust
Panagiotis I Sergouniotis	Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust
Michel Michaelides	UCL Institute of Ophthalmology, University College London
Michel Michaelides	Moorfields Eye Hospital NHS Foundation Trust
Fiona Cunningham	European Bioinformatics Institute
Fiona Cunningham	European Bioinformatics Institute
Dalia Kasperaviciute	Genomics England Ltd
David R FitzPatrick	MRC Institute of Genetics and Cancer, University of Edinburgh
Graeme C M Black	University of Manchester
Graeme C M Black	St Mary's Hospital, Manchester University NHS Foundation Trust
Jamie M Ellingford	University of Manchester
Jamie M Ellingford	Genomics England Ltd

Dataset	Description	Source Link
Ensembl	Ensembl (https://www.ensembl.org) has produced high-quality genomic resourc	Link
Ensembl	Genome browser, API and database, providing access to reference genome annotation	Link
Ensembl	Ensembl (https://www.ensembl.org) has produced high-quality genomic resourc	Link
Ensembl	Ensembl (https://www.ensembl.org) has produced high-quality genomic resourc	Link
Ensembl	Ensembl (https://www.ensembl.org) has produced high-quality genomic resourc	Link
Ensembl	Ensembl (https://www.ensembl.org) has produced high-quality genomic resourc	Link
Ensembl	Ensembl (https://www.ensembl.org) has produced high-quality genomic resourc	Link
Ensembl	Genome browser, API and database, providing access to reference genome annotation	Link
Ensembl	Ensembl (https://www.ensembl.org) has produced high-quality genomic resourc	Link
Ensembl	Ensembl (https://www.ensembl.org) has produced high-quality genomic resourc	Link
Ensembl	Genome browser, API and database, providing access to reference genome annotation	Link
Ensembl	Genome browser, API and database, providing access to reference genome annotation	Link
Ensembl	Genome browser, API and database, providing access to reference genome annotation	Link
Ensembl	Ensembl (https://www.ensembl.org) has produced high-quality genomic resourc	Link
Ensembl	Genome browser, API and database, providing access to reference genome annotation	Link

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