Panel-based genetic testing for inherited retinal disease screening 176 genes.

doi:10.1002/mgg3.1663

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Panel-based genetic testing for inherited retinal disease screening 176 genes.

Molecular genetics & genomic medicine - 1 Dec 2021

Sheck Leo H N, Esposti Simona D, Mahroo Omar A, Arno Gavin, Pontikos Nikolas, Wright Genevieve, Webster Andrew R, Khan Kamron N, Michaelides Michel

Abstract excerpt

BACKGROUND: This case series reports the performance of a next-generation sequencing (NGS) panel of 176 retinal genes (NGS 176) in patients with inherited retinal disease (IRD). METHODS: Subjects are patients who underwent genetic testing between 1 August 2016 and 1 January 2018 at Moorfields Eye Hospital, London, UK. Panel-based genetic testing was performed unless a specific gene (e.g., RS1) or small group of...

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PMID: 33749171
DOI: 10.1002/mgg3.1663
PMCID: PMC8683638

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