Connectathon 11 Snapshot

This page is part of the FHIR Specification (v1.2.0: STU 3 Draft). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions

4.28.14 Profile for Consensus Sequence Block

4.28.14.1 Overview

Another profile is created for variants and consensus sequence in HLA typing report on top of the Observation resource. The variant extension referring to the Sequence resource has multiple values so this profile can support multi-variant.

4.28.14.2 Content

Profiles:
Consensus-sequence-blockDescribes consensus sequence block used in HLA typing report
Extensions:
observation-consensus-sequence-blockReferenceSeqReference Sequence Id :

Reference Sequence Id.

observation-consensus-sequence-blockStart0-based start position (inclusive) of the sequence :

Inclusive 0-based nucleotide position for start of genomic finding on the positive (+) genomics strand.

observation-consensus-sequence-blockEnd0-based end position (exclusive) of the sequence :

Exclusive 0-based nucleotide position for end of genomic finding on the positive (+) genomic strand.

observation-consensus-sequence-blockPhaseSetPhase Set :

A phase set identifier to associate different consensussequence-blocks.

observation-consensus-sequence-blockExpectedCopyNumberExpected Copy Number :

To indicated how many copies of the sequence block was expected.

observation-consensus-sequence-blockContinuityContinuity :

A continuity flag to indicate whether a gap exists between blocks.

observation-consensus-sequence-blockVariantVariant info :

Variant info.

observation-consensus-sequence-blockSequenceQualitySequence Quality :

Sequence Quality.

Examples:
consensus-sequence-block-1

Example of HLA genotyping results - consensus sequence block 1

consensus-sequence-block-2

Example of HLA genotyping results - consensus sequence block 2