Release 5 Preview #2

Sequence-example-pgx-1

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Patient

This is the narrative for the resource. See also the XML, JSON or Turtle format. This example conforms to the profile MolecularSequence.


Generated Narrative

id: example-pgx-1

type: dna

coordinateSystem: 0

patient: Generated Summary: id: example; Medical record number = 12345 (USUAL); active; Peter James Chalmers (OFFICIAL), Jim , Peter James Windsor (MAIDEN); -unknown-(HOME), ph: (03) 5555 6473(WORK), ph: (03) 3410 5613(MOBILE), ph: (03) 5555 8834(OLD); gender: male; birthDate: 1974-12-25;

ReferenceSeqs

-OrientationReferenceSeqIdStrandWindowStartWindowEnd
*senseNG_007726.3watson5522797055227980

Variants

-StartEndObservedAlleleReferenceAlleleVariantPointer
*5522797655227977GTTarget Haplotype Observation

 

Other examples that reference this example:

  • Provenance/CWL Workflow
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    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.