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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

Abstract:

Inherited retinal degeneration (IRD) is a common cause of visual impairment (prevalence ∼1/3500). There is considerable phenotype and genotype heterogeneity, making a specific diagnosis very difficult without molecular testing. We investigated targeted capture combined with next-generation sequencing using Nimblegen 12plex arrays and the Roche 454 sequencing platform to explore its potential for clinical diagnostics in two common types of IRD, retinitis pigmentosa and cone-rod dystrophy. 50 p...

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Publication status:
Published

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Publisher copy:
10.1038/ejhg.2013.91

Authors


Shanks, ME More by this author
Downes, SM More by this author
Copley, RR More by this author
Broxholme, J More by this author
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Journal:
Eur J Hum Genet
Volume:
21
Issue:
9
Pages:
1031
Publication date:
2013-09-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:52741f0d-8534-4a96-b4e4-96018ee423a9
Source identifiers:
388173
Local pid:
pubs:388173

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