Release 5 R6 Ballot (3rd Draft)

This page is part of the FHIR Specification (v5.0.0: R5 - STU v6.0.0-ballot3: Release 6 Ballot (3rd Draft) (see Ballot Notes ). This is the The current published version in it's permanent home (it will always be available at this URL). 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 N/A Compartments : Patient No defined compartments

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 Example of focus (the mother was sequenced) versus subject (a child is the patient of record) molecularsequence-focus-example XML JSON Turtle
Example Name id Format
Simple sequence example example 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.