TRACK#6 - 基因定序標記

基因檢測紀錄

FHIR Resource

MolecularSequece resource

• Raw data describing a biological sequence
• A sequence which contains the alignment sequencing test result and multiple variations

Observation-genetics profile on Observation

• Variant related data
  • Gene、DNARegionName、Discrete genetic variant、Genomic DNA change、Genomic source class (Germline / Somatic)、Amino acid / Genomic DNA change、Amino acid / Genomic DNA change Type、Cytogenetic (chromosome) location、etc

MolecularSeq

Observation

聯測項目

• Support the sending of the MolecularSequence resource and Genetics profiles

• Support the receiving and processing of the MolecularSequence resource and Genetics profiles

資安授權機制

• 支援JWT機制
• 支援權限控管機制

聯測 情境一

Create a New MolecularSequence and Observation

• Create a sequence instance and a genetic-profile-based observation instance to represent genetics data and interpretations
  • DNA variant

Roles

• MolecularSequence and Genetics profile Creator

聯測 情境二

Retrieve Clinical Sequencing - Germline Testing

• Search target genetic-profile-based observation with given patient ID

Roles

• MolecularSequence and Genetics profile Consumer