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Diagnostic exome sequencing in 266 Dutch patients with visual impairment

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Diagnostic exome sequencing in 266 Dutch patients with visual impairment

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5437915

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

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Publication information

Publisher

England: Nature Publishing Group

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Contents

Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in genes known to cause inherited eye disorders were as...

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Full title

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

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Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5437915

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5437915

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ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2017.9

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