Release 5 Preview #3

Molecularsequence-example

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

Ids

-
*

type: dna

coordinateSystem: 0

patient: Generated Summary: Medical record number: 12345 (USUAL); active; Peter James Chalmers (OFFICIAL), Jim , Peter James Windsor (MAIDEN); , Phone: (03) 5555 6473, Phone: (03) 3410 5613, Phone: (03) 5555 8834; gender: male; birthDate: 1974-12-25;

ReferenceSeqs

-ReferenceSeqIdStrandWindowStartWindowEnd
*NC_000009.11watson2212550022125510

Variants

-StartEndObservedAlleleReferenceAllele
*2212550322125504CG

Repositories

-TypeUrlNameVariantsetId
*openapihttp://grch37.rest.ensembl.org/ga4gh/variants/3:rs1333049?content-type=application/jsonGA4GH API3:rs1333049

 

Other examples that reference this example:

  • Provenance/Biocompute Object
  •  

    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.