NCPI FHIR Implementation Guide v2
0.2.0 - ci-build

NCPI FHIR Implementation Guide v2 - Local Development build (v0.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Example Observation: Example file metadata for a BAM-CRAM file from GREGoR

Part of Study: ResearchStudy: identifier = AnVIL_GREGoR_GSS_U08_GRU; status = completed

status: Final

code: format_2572

focus: Anonymous Patient (no stated gender), DoB Unknown ( https://anvil.terra.bio/#GSS123456)

specimen: Specimen: extension = ->ResearchStudy: identifier = AnVIL_GREGoR_GSS_U08_GRU; status = completed; identifier = GSS123456-s1; type =

component

code: Assay strategy

value: whole genome sequencing assay

component

code: Platform instrument

value: Illumina HiSeq 2000

component

code: Library preparation

value: polyA

component

code: Library selection

value: PolyTEnrichment

component

code: Target region

value: Not Applicable

component

code: Strandedness

value: stranded

component

code: Reference genome

value: GRCh38

component

code: Is paired end

value: false

component

code: Workflow tool

value: bammem

component

code: Workflow type

value: alignment