Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - 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 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of and changes regularly. See the Directory of published versions

ValueSet: Genomic Study Type ValueSet (Experimental)

Official URL: Version: 3.0.1-SNAPSHOT
Active as of 2024-07-15 Computable Name: GenomicStudyTypeVS

Backport of


Logical Definition (CLD)

Generated Narrative: ValueSet genomic-study-type-vs



Generated Narrative: ValueSet

Expansion based on codesystem Genomic Study Type CodeSystem v3.0.1-SNAPSHOT (CodeSystem)

This value set contains 12 concepts

  alt-splc splicing detection

Identification of multiple different processed mRNA transcripts from the same DNA template

  chromatin conformation

Analysis of the spacial organization of chromatin within a cell

  cnv detection

Detection 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-hist Alterations - histone modifications

Detection 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-dna Alterations -DNA methylation

Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription

  fam-var-segr variant segregation

Determining if a variant identified in an individual is present in other family members

  func-var variation detection

Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence

  gene-expression expression profiling

Measurement and characterization of activity from all gene products

  post-trans-mod Modification Identification

Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein

  snp Detection

Determination of which nucleotide is base present at a known variable location of the genomic sequence

  str count

Quantification of the number of sequential microsatellite units in a repetitive sequence region

  struc-var variation detection

Detection 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