R4 Draft for Comment

This page is part of the FHIR Specification (v3.2.0: R4 Ballot 1). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions

10.6.6 Resource Sequence - Examples

Clinical Genomics Work GroupMaturity Level: N/ABallot Status: Informative Compartments: Not linked to any defined compartments

Example List:

Simple sequence exampleexampleXMLJSONTurtle
Sequence example from precisionFDAfda-exampleXMLJSONTurtle
Example of representing complex variants in Sequence Resourcesequence-complex-variantXMLJSONTurtle
Example of a single varaint on a reference Sequence related to a haplotype observation in PGx exampleexample-pgx-1XMLJSONTurtle
Example of another single varaint on a reference Sequence 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
Sequence Graphic example-1graphic-example-1XMLJSONTurtle
Sequence Graphic example-2graphic-example-2XMLJSONTurtle
Sequence Graphic example-3graphic-example-3XMLJSONTurtle
Sequence Graphic example-4graphic-example-4XMLJSONTurtle
Sequence Graphic example-5graphic-example-5XMLJSONTurtle
Example of a record with 0-based coordinatesystemcoord-0-baseXMLJSONTurtle
Example of a record with 1-based coordinatesystemcoord-1-baseXMLJSONTurtle
Sequence example for vcf comparison on precisionFDAfda-vcf-comparisonXMLJSONTurtle
Sequence example for vcf and Hap.py comparison on precisionFDAfda-vcfeval-comparisonXMLJSONTurtle
Sequence example for patient with breast cancer gene variantbreastcancerXMLJSONTurtle
 

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.