MolecularSequence - FHIR v5.0.0-snapshot3

Snapshot 3: Connectathon 32 Base

This page is part of the FHIR Specification (v5.0.0-snapshot3: R5 Snapshot #3, to support Connectathon 32). 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 Group

Maturity Level: N/A

Standards Status: Informative

Security Category: Patient

Compartments: Patient

Example Name	id	Format
Simple sequence example	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
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 patient with breast cancer gene variant	breastcancer	XML	JSON	Turtle
MolecularSequence example for long fusion RNA molecule of FGFR and MET	seq-ordinal	XML	JSON	Turtle
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-fusion	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.