SequenceConsensusSequenceBlock[edit | edit source]
Describes consensus sequence block used in HLA typing report.
This profile was created to attempt to satisfy the requirements for a specific use case: HLA genotyping by NGS methods. It is based on the principles of the Minimum Information for ReportIng Next generation sequence Genotyping (MIRING) as described in Hum Immunol. 2015 Dec;76(12):954-62. doi: 10.1016/j.humimm.2015.09.011. Epub 2015 Sep 25. A technical implementation of MIRING was developed in the Histomimmungenetics Markup Language (HML) and published in Hum Immunol. 2015 Dec;76(12):963-74. doi: 10.1016/j.humimm.2015.08.001. Epub 2015 Aug 28. The schema for HML may be found in http://schemas.nmdp.org/
We are using MIRING and HML to inform how FHIR profile(s) may be developed. In this case, a Consensus Sequence is composed of one or more Consensus Sequence Blocks. Metadata about each block is important, but not yet captured in the Sequence Resource, or other profiles. These include: phase set, expected copy number, block continuity, and strand. This profile extends the Sequence Resource to add these elements.
Profile balloting plans[edit | edit source]
Profile Details[edit | edit source]
Profiled Resource(s)[edit | edit source]
Constraints to be Applied[edit | edit source]
The following constraints are applied to the Sequence resource as necessary:
- Constrain the cardinality of the data elements within the resource.
- Constrain the mustSupport attribute of the data elements within the resource.
- Define searchParameters as necessary for the resource.
- Constrain vocabularies for the resources as applicable.
Extensions to be Applied[edit | edit source]
The following extensions are applied to the Sequence resource as appropriate:
- Clinical genomics specific extensions.
Example Scenarios[edit | edit source]
- Query Examples for each resource.
- Query Result Examples for each resource.
Scope of coverage[edit | edit source]
- Subject: patient
- Disciplines: Patient Care, Clinical Research, Public Health
- Delivery Environment: Inpatient, Ambulatory, Community, Emergency, etc.
Realm[edit | edit source]
Ownership[edit | edit source]
Owning committee name[edit | edit source]
Contributing or Reviewing Work Groups[edit | edit source]
Expected implementations[edit | edit source]
gForge Users[edit | edit source]
- Gil Alterovitz
- Gaston Fiore
FHIR Profile Development Project Insight ID[edit | edit source]
Plans[edit | edit source]
Timelines[edit | edit source]
- July 2016
Balloting Requirements[edit | edit source]
- Ballot with next FHIR DSTU or Normative Edition
Desired Ballot Date
- End 2016