Content-Based Discovery at /individuals Level

This allows querying based on safe versions of individual records within the resource’s data. This “record-level” querying takes is powerful, in that enables researchers to extract valuable insights from resources without compromising data privacy. Indeed, if this capability is implemented via certain of the ERDERA solutions (RD-Nexus, Molgenis) a resource can optionally extend the scope and power of their discovery services to enable private networks, specialised permissions for users, and even full record discovery in other projects should they wish to do so. In the ERDERA setting, we only query content as per the ERDERA Beacon v2 API specification, and the resource has the option of responding only if the user has been authenticated (logged in) via the VP. The queried content is based on the recommended CDEs and discussions with several rare disease partners. The following table shows an overview of the filters used at the record level, as defined in the ERDERA VP API Specification [link]. This endpoint is most suitable for querying individual registries, biobanks and knowledge bases (i.e., resources with data about entities such as patients, biosamples, cell lines, etc).

The filters shown in the table below can be applied to a query to only show certain results.

Filters supported by the API endpoint: /individuals (click for the full specification)

CDE Concept	CDE Term	Usage notes	ERDERA Beacon v2 Filter Type	Expected Response
Sex	obo:NCIT_C28421 (Sex)	The biological sex of an individual patient	Alphanumerical	Counts
Disease or Disorder	obo:NCIT_C2991(Disease or Disorder)	All rare diseases that have been diagnosed within an individual	Ontology	Counts
Phenotype	sio:phenotype	HPO terms of all phenotypes observed within an individual	Ontology	Result set or counts
Causative Genes	edam:data_2295 (Gene ID)	All genes which have been deemed as causative of one or more of the diagnosed rare diseases in an individual	Alphanumerical	Counts
Age this year	obo:NCIT_C83164 (Birth Year)	Age at the end of the current year	Numerical	Counts
Symptom Onset	obo:NCIT_C124353 (Symptom Onset)	Age at the manifestation of a rare disease	Numerical	Counts
Age at diagnosis	obo:NCIT_C156420 (Age at Diagnosis)	Age at the diagnosis of a rare disease	Numerical	Counts

Please note:

• Resources choose which filters (i.e., CDEs) they want to implement for their /individuals endpoint.