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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.

Homepage https://eyegene.nih.gov

Countries that developed this resource United States

Created in 2006

Taxonomic range

Homo sapiens

Knowledge Domains

Subjects

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: Jan 26 2022 8:09 p.m.

This record is maintained by NEI Data Commons (goetzke) ORCID

Record added: July 24, 2017, 1:59 p.m.
Record updated: Jan. 8, 2020, 9:07 a.m. by The FAIRsharing Team.

Show edit history

Edits to 'https://fairsharing.org/FAIRsharing.5nnxqn' by 'The FAIRsharing Team' at 09:07, 08 Jan 2020 (approved):

	'supportLinks' has been modified:
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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
		Added:
			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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	'onto_disciplines' has been modified:
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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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	'miriam_id' has been modified:
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	'publications' has been modified:
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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
		Added:
			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
			Submit
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			Login
			Submit
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In Collections

RDA Covid-19 WG Resources

Support

General

FAQ	https://eyegene.nih.gov/about/faq
blog	News
online documentation	How to get an account
online documentation	How to access data
online documentation	Webinars

Additional Information

Contact

Kerry Goetz ORCID

Tools

No tools defined

Access / Retrieve Data

Conditions of Use

Data Curation

Submit

https://eyegene.nih.gov/how-to/contribute-data

Data Access

https://brics.nei.nih.gov/cas/login?service=https%3A%2F%2Fbrics.nei.ni ...

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--National Ophthalmic Disease Genotyping Network.

Insight 2009

View Paper (PubMed)

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

Related Standards

Reporting Guidelines

No guidelines defined

Terminology Artifacts

No semantic standards defined

Models and Formats

No syntax standards defined

Identifier Schemas

No identifier schema standards defined

Metrics

No metrics standards defined

Related Databases

No related databases defined

Implementing Policies

This record is not implemented by any policy.

Credit

Record Maintainer

This record is maintained by NEI Data Commons (goetzke) ORCID

Maintains

NEI NIH (Government body)

eyeGENE: The National Ophthalmic Genotyping and Phenotyping Network

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