View source for SequenceConsensusSequenceBlock FHIR Profile Proposal


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Current version: https://confluence.hl7.org/display/FHIR/SequenceConsensusSequenceBlock+FHIR+Profile+Proposal<div style="float: left;">[[Image:OpenHotTopic.GIF|35px| ]]</div>
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This page documents a [[:category:Pending FHIR Resource Proposal|Pending]] [[:category:FHIR Resource Proposal|FHIR Resource Proposal]]
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[[Category:FHIR Resource Proposal]]
[[Category:FHIR Profile Proposal]]
[[Category:Pending FHIR Profile Proposal]]


<!-- For additional guidance on considerations for profile creation, refer to [[FHIR Profile Considerations]] -->


=SequenceConsensusSequenceBlock=

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==

STU3

==Profile Details==

===Profiled Resource(s)===

*[http://hl7-fhir.github.io/sequence.html Sequence]

====Constraints to be Applied====

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====

The following extensions are applied to the Sequence resource as appropriate:

*Clinical genomics specific extensions.

===Example Scenarios===

*Query Examples for each resource.
*Query Result Examples for each resource.

===Scope of coverage===

*Subject: patient
*Disciplines: Patient Care, Clinical Research, Public Health
*Delivery Environment: Inpatient, Ambulatory, Community, Emergency, etc.

===Realm===
Clinical genomics.

==Ownership==
===Owning committee name===

[[Clinical Genomics]]

===Contributing or Reviewing Work Groups===

*None

===Expected implementations===

<!--Key Profiles are justified by CCDA, for Profiles not deemed "key", what interest is there by implementers in using this particular Profile. Provide named implementations if possible - ideally provide multiple independent implementations. -->

===gForge Users===

*Gil Alterovitz
*Gaston Fiore

===FHIR Profile Development Project Insight ID===

1110

==Plans==
===Timelines===

*July 2016

===Balloting Requirements===

*Ballot with next FHIR DSTU or Normative Edition

Desired Ballot Date

*End 2016