Release 4 5 Snapshot #1

This page is part of the FHIR Specification (v4.0.1: R4 - Mixed Normative and STU ) in it's permanent home (it will always be available at this URL). (v5.0.0-snapshot1: R5 Snapshot #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 . Page versions: R5 R4B R4

Clinical Genomics Work Group Maturity Level : N/A Standards Status : Informative Security Category : Patient Compartments : Patient
Example Name id Format
Simple sequence example example XML JSON Turtle
MolecularSequence example from precisionFDA fda-example XML JSON Turtle
Example of representing complex variants in MolecularSequence resource sequence-complex-variant XML JSON Turtle
Example of a single varaint on a reference MolecularSequence related to a haplotype observation in PGx example example-pgx-1 XML JSON Turtle
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-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
MolecularSequence Graphic example-1 graphic-example-1 XML JSON Turtle
MolecularSequence Graphic example-2 graphic-example-2 XML JSON Turtle
MolecularSequence Graphic example-3 graphic-example-3 XML JSON Turtle
MolecularSequence Graphic example-4 graphic-example-4 XML JSON Turtle
MolecularSequence 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
MolecularSequence example for vcf comparison on precisionFDA fda-vcf-comparison XML JSON Turtle
MolecularSequence example for vcf and Hap.py comparison on precisionFDA fda-vcfeval-comparison XML JSON Turtle
MolecularSequence 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.