eyeGENE: The National Ophthalmic Genotyping and Phenotyping Network
Abbreviation:eyeGENE
General Information
The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®) is a genomic medicine initiative created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), in partnership with clinics and laboratories across the vision research community. The core mission of eyeGENE® is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatments. eyeGENE® was designed to achieve this goal through clinical and molecular diagnosis coupled with granting controlled access to clinical and genetic information in a data repository, to DNA in a biorepository, and to individuals consented to participate in research and clinical trials.
The eyeGENE® Network currently includes a Coordinating Center at the NEI, CLIA†-approved molecular genetic testing laboratories around the Nation, a patient registry, controlled-access centralized biorepository for DNA, and a curated de-identified genotype / phenotype database.
These components stimulate patient and eye health care provider interest in genetics-based clinical care and generate involvement in ophthalmic research, thereby accelerating vision research and treatment development for these diseases.
How to cite this record
FAIRsharing.org: eyeGENE; eyeGENE: The National Ophthalmic Genotyping and Phenotyping Network; DOI: https://doi.org/10.25504/FAIRsharing.5nnxqn;
Last edited: Jan. 8, 2020, 2:10 p.m.; Last accessed: Sep 25 2020 7:12 a.m.
Record added: July 24, 2017, 1:59 p.m.
Record updated:
Jan. 8, 2020, 9:07 a.m. by The FAIRsharing Team.
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Edits to 'https://fairsharing.org/FAIRsharing.5nnxqn' by 'The FAIRsharing Team' at 09:07, 08 Jan 2020 (approved):
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FAQ|https://eyegene.nih.gov/about/faq
blog|https://eyegene.nih.gov/news
online documentation|https://eyegene.nih.gov/how-to/get-an-account
online documentation|https://eyegene.nih.gov/how-to/access-data
online documentation|https://eyegene.nih.gov/news/webinars
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FAQ|https://eyegene.nih.gov/about/faq
blog|https://eyegene.nih.gov/news
online documentation|https://eyegene.nih.gov/how-to/get-an-account
online documentation|https://eyegene.nih.gov/how-to/access-data
online documentation|https://eyegene.nih.gov/news/webinars
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Biomedical Science
Human Genetics
Medicine
Preclinical Studies
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Biomedical Science
Human Genetics
Medicine
Ophthalmology
Preclinical Studies
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Ophthalmology
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eyeGENE(R): a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing.|Blain D,Goetz KE,Ayyagari R,Tumminia SJ|Clin Genet|2013
EyeGENE--National Ophthalmic Disease Genotyping Network.||Insight|2009
eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease.|Goetz KE,Reeves MJ,Tumminia SJ,Brooks BP|Curr Opin Ophthalmol|2012
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eyeGENE(R): a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing.|Blain D,Goetz KE,Ayyagari R,Tumminia SJ|Clin Genet|2013
EyeGENE--National Ophthalmic Disease Genotyping Network.||Insight|2009
eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease.|Goetz KE,Reeves MJ,Tumminia SJ,Brooks BP|Curr Opin Ophthalmol|2012
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Login
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Access / Retrieve Data
Conditions of Use
Data Curation
Data Access
Publications
eyeGENE(R): a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing.
Blain D,Goetz KE,Ayyagari R,Tumminia SJ
Clin Genet 2013
View Paper (PubMed)
View Publication
eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease.
Goetz KE,Reeves MJ,Tumminia SJ,Brooks BP
Curr Opin Ophthalmol 2012
View Paper (PubMed)
View Publication
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