Release 4 5 Snapshot #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). (v5.0.0-snapshot1: Release 5 Snapshot #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-comparisons

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-vcf-comparison

Resource "fda-vcf-comparison"

coordinateSystem : 1

patient : Patient/example "Peter CHALMERS"

ReferenceSeqs

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

Variants

- Start End ObservedAllele ReferenceAllele
* 13116 13117 T G

Qualities

- Type StandardSequence Start End Score Method TruthTP TruthFN QueryFP GtFP Precision FScore
* unknown file-BkZxBZ00bpJVk2q6x43b1YBx (Details : {https://precision.fda.gov/files/ code 'file-BkZxBZ00bpJVk2q6x43b1YBx' = 'file-BkZxBZ00bpJVk2q6x43b1YBx) (#file-BkZxBZ00bpJVk2q6x43b1YBx) 10453 101770080 5.000 VCF Comparison (Details : {https://precision.fda.gov/apps/ code 'app-BqB9XZ8006ZZ2g5KzGXP3fpq' = 'app-BqB9XZ8006ZZ2g5KzGXP3fpq) (#app-BqB9XZ8006ZZ2g5KzGXP3fpq) 129481 3168 1507 2186 0.9885 0.9823

Repositories

- Type Url Name
* login https://precision.fda.gov/comparisons/1850 FDA

 

 

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.