eyeGENE specifications


Unique identifier OMICS_05773
Name eyeGENE
Restrictions to use None
Maintained Yes


  • Primates
    • Homo sapiens

Publication for eyeGENE

eyeGENE citations


Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy

PMCID: 4867567
PMID: 27247961
DOI: 10.1002/mgg3.208

[…] Genotyping was performed on blood samples submitted to the University of Alberta or eyeGENE™ program (MacDonald et al. ). The 15 exons of the CHM gene (GenBank NM_000390.2) and their immediately adjacent intron sequences were sequenced.In order to search for any preferences for the i […]


NGS based Molecular diagnosis of 105 eyeGENE® probands with Retinitis Pigmentosa

Sci Rep
PMCID: 4678898
PMID: 26667666
DOI: 10.1038/srep18287
call_split See protocol

[…] wnstream from the mutation. After PCR amplification, the amplicons were sequenced on an ABI 3730xl or 3500XL Genetic Analyzer. Reports of the high-confidence genetic testing results were sent back to eyeGENE® and positive results were confirmed through direct sequencing by the CLIA certified laboratories in the eyeGENE® Network. Confirmed results were then shared with the referring clinician. […]

eyeGENE institution(s)
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA

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