Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

ValueSet: Genomic Study Type ValueSet (Experimental)

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-type-vs Version: 4.0.0-ballot
Standards status: Informative Computable Name: GenomicStudyTypeVS

Backport of http://hl7.org/fhir/ValueSet/genomicstudy-type

References

Logical Definition (CLD)

 

Expansion

Expansion performed internally based on codesystem Genomic Study Type CodeSystem v4.0.0-ballot (CodeSystem)

This value set contains 12 concepts

CodeSystemDisplay (en-US)Definition
  alt-splchttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-csAlternative splicing detectionIdentification of multiple different processed mRNA transcripts from the same DNA template
  chromatinhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-csChromatin conformationAnalysis of the spacial organization of chromatin within a cell
  cnvhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-csCNV detectionDetection of a change in the number of copies of a defined region of genomic DNA sequence resulting in structural variation when compared to the reference sequence
  epi-alt-histhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-csEpigenetic Alterations - histone modificationsDetection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression
  epi-alt-dnahttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-csEpigenetic Alterations -DNA methylationDetection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription
  fam-var-segrhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-csFamilial variant segregationDetermining if a variant identified in an individual is present in other family members
  func-varhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-csFunctional variation detectionDetection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence
  gene-expressionhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-csGene expression profilingMeasurement and characterization of activity from all gene products
  post-trans-modhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-csPost-translational Modification IdentificationDetection of biochemical modifications covalently bound to the amino acid monomers of a processed protein
  snphttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-csSNP DetectionDetermination of which nucleotide is base present at a known variable location of the genomic sequence
  strhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-csSTR countQuantification of the number of sequential microsatellite units in a repetitive sequence region
  struc-varhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-csStructural variation detectionDetection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code