R5 Final QA

This page is part of the FHIR Specification (v5.0.0-draft-final: Final QA Preview for R5 - see ballot notes). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4

10.7.7 Resource MolecularSequence - Examples

Clinical Genomics icon Work GroupMaturity Level: N/AStandards Status: InformativeSecurity Category: Patient Compartments: Patient
Example NameidFormat
Simple sequence exampleexampleXMLJSONTurtle
Example of representing complex variants in MolecularSequence resourcesequence-complex-variantXMLJSONTurtle
Example of a single varaint on a reference MolecularSequence related to a haplotype observation in PGx exampleexample-pgx-1XMLJSONTurtle
Example of another single varaint on a reference MolecularSequence related to a haplotype observation in PGx example, which will form with the other haplotype data to be a diplotype observation.example-pgx-2XMLJSONTurtle
Example of a TPMT SNP data that support a haplotype observationexample-TPMT-oneXMLJSONTurtle
Example of another TPMT SNP data that support a haplotype observationexample-TPMT-twoXMLJSONTurtle
Example of a record with 0-based coordinatesystemcoord-0-baseXMLJSONTurtle
Example of a record with 1-based coordinatesystemcoord-1-baseXMLJSONTurtle
MolecularSequence example for patient with breast cancer gene variantbreastcancerXMLJSONTurtle
MolecularSequence example for long fusion RNA molecule of FGFR and METseq-ordinalXMLJSONTurtle
BCR-ABL1 fusion (COSMIC https://cancer.sanger.ac.uk/cosmic/fusion/summary?id=1755). 5-prime end comprised of BCR exons 1-14. 3-prime end comprised of ABL1 exons 2-11.sequence-example-fusionXMLJSONTurtle
Example of focus (the mother was sequenced) versus subject (a child is the patient of record)molecularsequence-focus-exampleXMLJSONTurtle
 

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.