Release 4 5 Preview #1

This page is part of the FHIR Specification (v4.0.1: R4 - Mixed Normative and STU ) in it's permanent home (it will always be available at this URL). (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 Group Maturity Level : N/A Standards Status : Informative Compartments : 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

- ReferenceSeqId Strand WindowStart WindowEnd
* NC_000001.11 (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NC_000001.11' = 'NC_000001.11) watson 10453 101770080

Variants

- Start End ObservedAllele ReferenceAllele
* 13116 13117 T G

Qualities

- Type StandardSequence Start End Method TruthTP QueryTP TruthFN QueryFP GtFP Precision Recall FScore
* snp file-Bk50V4Q0qVb65P0v2VPbfYPZ (Details : {https://precision.fda.gov/files/ code 'file-Bk50V4Q0qVb65P0v2VPbfYPZ' = 'file-Bk50V4Q0qVb65P0v2VPbfYPZ) 10453 101770080 Vcfeval + Hap.py Comparison (Details : {https://precision.fda.gov/jobs/ code 'job-ByxYPx809jFVy21KJG74Jg3Y' = 'job-ByxYPx809jFVy21KJG74Jg3Y) 7749 7984 2554 10670 2186 0.428005 0.752111 0.545551

Repositories

- Type Url Name VariantsetId
* login https://precision.fda.gov/files/file-Bx37ZK009P4bX5g3qjkFZV38 FDA file-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.