Track#6 - Genomics
聯測要求
- Support the sending of the MolecularSequence resource/genetics profiles
- Support the receiving and processing of the MolecularSequence resource/genetics profiles
- Operations: create, delete, search and update.
資安授權機制
Role
- MolecularSequence Creator
- MolecularSequence Consumer
- Genetics profile Creator
- Genetics profile Consumer
Scenarios
Scenario 1 Create a New MolecularSequence and Observation (Source)
- Action: (FHIR Client) Create a sequence instance and a genetic-profile-based observation instance to represent genetics data and interpretations (DNA variant, RNA sequence, structural variant, etc).
- Precondition: The sequence instance and observation instance do not exist in service prior to action.
- Success Criteria: Sequence and observation instances created correctly on server and in the desired format.
Scenario 2 Retrieve Clinical Sequencing - Germline Testing (Consumer)
- Action: (FHIR Client) Search target genetic-profile-based observation with given patient ID.
- Precondition: Relevant patient and observations have been created.
- Success Criteria: A bundle of genetics observations from germline analysis of that patient are returned.
- Bonus point: More parameters can be added for searching
公開技術規格 : https://mitw.dicom.org.tw/preconnectathon6.html