The Genetic Testing Registry (GTR®) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease
Identifiers appearing in MONDO don't match any of the resources apparent endpoints
gtr.conditionA summary of the relations in the Semantic Farm schema can be found here.
bioregistry.schema:0000018
)
A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).
The local unique identifier AN0097748 is used to demonstrate the providers
available for Genetic Testing Registry. Some providers may use a different example, which is displayed in the table below.
A guide for curating additional providers can be found
here.
| Name | Metaprefix | URI |
|---|---|---|
| Genetic Testing Registry | gtr.condition |
https://www.ncbi.nlm.nih.gov/gtr/conditions/AN0097748 |
| Bioregistry | bioregistry |
https://bioregistry.io/gtr.condition:AN0097748 |