Snapshot 3: Connectathon 32 Base

This is Snapshot #3 for FHIR R5, released to support Connectathon 32. For a full list of available versions, see the Directory of published versions.

Example GenomicStudy/example-trio2 (Narrative)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Patient

This is the narrative for the resource. See also the XML, JSON or Turtle format. This example conforms to the profile GenomicStudy.

Prenatal Trio Whole Exome Sequencing testing to identify causal mutations of inherited diseases. Test order was for trio testing with three specimens i.e., proband, mother, father included. A comparator analysis-based trio report was to be generated for the proband; both parents had consented to receive reports on secondary findings.

 

 

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.