MolecularSequence - FHIR v4.3.0-snapshot1

Release 4B Snapshot #1

This page is part of the FHIR Specification v4.3.0-snapshot1: R4B Snapshot to support the Jan 2022 Connectathon. About the R4B version of FHIR. The current officially released version is 4.3.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4

10.6.7 Resource MolecularSequence - Examples

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.