Release 5 Preview #1

This page is part of the FHIR Specification (v4.2.0: R5 Preview #1). 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: R4B R4 R3

Sequence-example-fda

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 with Details

id: fda-example

type: dna

coordinateSystem: 1

patient: Patient/example

ReferenceSeqs

-ReferenceSeqIdStrandWindowStartWindowEnd
*NC_000001.11 (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NC_000001.11' = 'NC_000001.11)watson10453101770080

Variants

-StartEndObservedAlleleReferenceAllele
*1311613117TG

Qualities

-TypeStandardSequenceStartEndMethodTruthTPQueryTPTruthFNQueryFPGtFPPrecisionRecallFScore
*snpfile-Bk50V4Q0qVb65P0v2VPbfYPZ (Details : {https://precision.fda.gov/files/ code 'file-Bk50V4Q0qVb65P0v2VPbfYPZ' = 'file-Bk50V4Q0qVb65P0v2VPbfYPZ)10453101770080Vcfeval + Hap.py Comparison (Details : {https://precision.fda.gov/jobs/ code 'job-ByxYPx809jFVy21KJG74Jg3Y' = 'job-ByxYPx809jFVy21KJG74Jg3Y)7749798425541067021860.4280050.7521110.545551

Repositories

-TypeUrlNameVariantsetId
*loginhttps://precision.fda.gov/files/file-Bx37ZK009P4bX5g3qjkFZV38FDAfile-Bx37ZK009P4bX5g3qjkFZV38

 

 

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.