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Article

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ophthalmology - 1 May 2016

Ellingford Jamie M, Barton Stephanie, Bhaskar Sanjeev, Williams Simon G, Sergouniotis Panagiotis I, O'Sullivan James, Lamb Janine A, Perveen Rahat, Hall Georgina, Newman William G, Bishop Paul N, Roberts Stephen A, Leach Rick, Tearle Rick, Bayliss Stuart, Ramsden Simon C, Nemeth Andrea H, Black Graeme C M

Abstract excerpt

PURPOSE: To compare the efficacy of whole genome sequencing (WGS) with targeted next-generation sequencing (NGS) in the diagnosis of inherited retinal disease (IRD). DESIGN: Case series. PARTICIPANTS: A total of 562 patients diagnosed with IRD. METHODS: We performed a direct comparative analysis of current molecular diagnostics with WGS. We retrospectively reviewed the findings from a diagnostic NGS DNA test for...

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Share to Eye Diseases, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

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Share to Polymorphism, Single Nucleotide

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Share to Sequence Analysis, DNA

Source

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Identifiers

PMID: 26872967
DOI: 10.1016/j.ophtha.2016.01.009
PMCID: PMC4845717

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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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