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Track #6 - Genomic





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