R4 Ballot #1 #2 (Mixed Normative/Trial use)

This page is part of the FHIR Specification (v3.3.0: (v3.5.0: R4 Ballot 2). #2). The current version which supercedes this version is 5.0.0 . For a full list of available versions, see the Directory of published versions

Clinical Genomics Work Group Maturity Level : N/A Ballot Status : Informative Compartments : Not linked to any defined compartments

Example List:

Simple sequence example example XML JSON Turtle
Sequence example from precisionFDA fda-example XML JSON Turtle
Example of representing complex variants in Sequence Resource sequence-complex-variant XML JSON Turtle
Example of a single varaint on a reference Sequence related to a haplotype observation in PGx example example-pgx-1 XML JSON Turtle
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-2 XML JSON Turtle
Example of a TPMT SNP data that support a haplotype observation example-TPMT-one XML JSON Turtle
Example of another TPMT SNP data that support a haplotype observation example-TPMT-two XML JSON Turtle
Sequence Graphic example-1 graphic-example-1 XML JSON Turtle
Sequence Graphic example-2 graphic-example-2 XML JSON Turtle
Sequence Graphic example-3 graphic-example-3 XML JSON Turtle
Sequence Graphic example-4 graphic-example-4 XML JSON Turtle
Sequence Graphic example-5 graphic-example-5 XML JSON Turtle
Example of a record with 0-based coordinatesystem coord-0-base XML JSON Turtle
Example of a record with 1-based coordinatesystem coord-1-base XML JSON Turtle
Sequence example for vcf comparison on precisionFDA fda-vcf-comparison XML JSON Turtle
Sequence example for vcf and Hap.py comparison on precisionFDA fda-vcfeval-comparison XML JSON Turtle
Sequence example for patient with breast cancer gene variant breastcancer XML JSON Turtle
 

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.