databases > DOI:10.25504/FAIRsharing.5nnxqn
Update in progress: note to all users. FAIRsharing is always available for you to search and discover databases, standards and data policies. However, for producers of these resources who maintain or wish to add new records, please note that editing is disabled until September while we migrate our data to our new, improved system. Read our blog post or get in touch with us for more details.
21/09/21 Ongoing Network Maintenance: From the 21st of September FAIRsharing may be offline at various point during the day; we apologise for any inconvenience.

ready 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

Knowledge Domains 





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 2021 1:18 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


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

Login 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

Maintains