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: Nov 27 2020 2:19 p.m.
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
Hide edit history
Edits to 'https://fairsharing.org/FAIRsharing.5nnxqn' by 'The FAIRsharing Team' at 09:07, 08 Jan 2020 (approved):
'supportLinks' has been modified:
Before:
After:
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
Removed:
'onto_disciplines' has been modified:
Before:
Biomedical Science
Human Genetics
Medicine
Preclinical Studies
After:
Biomedical Science
Human Genetics
Medicine
Ophthalmology
Preclinical Studies
Added:
Ophthalmology
Removed:
'miriam_id' has been modified:
Before: None
After:
'publications' has been modified:
Before:
After:
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
Removed:
'dataProcesses' has been modified:
Before:
After:
Login
Submit
Added:
Login
Submit
Removed:
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
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.
We need your help!
Do you have 5-10 minutes to help FAIRsharing prioritize future enhancements?
Then please fill out this short questionnaire to
prioritise the improvements that are of greatest importance to you.
Your views will help us choose which enhancements to provide first. Thank you very much!
