Release 4B 5

This page is part of the FHIR Specification (v4.3.0: R4B (v5.0.0: R5 - STU ). The This is the current published version which supercedes in it's permanent home (it will always be available at this version is 5.0.0 . URL). For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R5 R4B R4

10.6.7 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
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 Example of a record with 0-based coordinatesystem graphic-example-5 coord-0-base XML JSON Turtle
Example of a record with 0-based 1-based coordinatesystem coord-0-base coord-1-base XML JSON Turtle
Example of a record MolecularSequence example for patient with 1-based coordinatesystem breast cancer gene variant coord-1-base breastcancer XML JSON Turtle
MolecularSequence example for vcf comparison on precisionFDA long fusion RNA molecule of FGFR and MET fda-vcf-comparison seq-ordinal XML JSON Turtle
MolecularSequence example for vcf and Hap.py comparison on precisionFDA 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. fda-vcfeval-comparison sequence-example-fusion XML JSON Turtle
MolecularSequence example for Example of focus (the mother was sequenced) versus subject (a child is the patient with breast cancer gene variant of record) breastcancer molecularsequence-focus-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.