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Article

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

Journal of medical genetics - 1 May 2012

O'Sullivan James, Mullaney Brendan G, Bhaskar Sanjeev S, Dickerson Jonathan E, Hall Georgina, O'Grady Anna, Webster Andrew, Ramsden Simon C, Black Graeme C

Abstract excerpt

OBJECTIVES: Current technologies for delivering gene testing are labour-intensive and expensive. Over the last 3 years, new high-throughput DNA sequencing techniques (next generation sequencing; NGS), with the capability to analyse multiple genes or entire genomes, have been rapidly adopted into research. This study examines the possibility of incorporating NGS into a clinical UK service context. METHODS: The...

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Identifiers

PMID: 22581970
DOI: 10.1136/jmedgenet-2012-100847

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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