Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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
Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-type-vs | Version: 3.0.0 | |||
Active as of 2024-11-24 | Computable Name: GenomicStudyTypeVS |
Backport of http://hl7.org/fhir/ValueSet/genomicstudy-type
References
Generated Narrative: ValueSet genomic-study-type-vs
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs
Generated Narrative: ValueSet
Expansion based on codesystem Genomic Study Type CodeSystem v3.0.0 (CodeSystem)
This value set contains 12 concepts
Code | System | Display | Definition |
alt-splc | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | Alternative splicing detection | Identification of multiple different processed mRNA transcripts from the same DNA template |
chromatin | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | Chromatin conformation | Analysis of the spacial organization of chromatin within a cell |
cnv | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | 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 | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | Epigenetic 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 | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | Epigenetic Alterations -DNA methylation | Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription |
fam-var-segr | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | Familial variant segregation | Determining if a variant identified in an individual is present in other family members |
func-var | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | Functional variation detection | Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence |
gene-expression | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | Gene expression profiling | Measurement and characterization of activity from all gene products |
post-trans-mod | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | Post-translational Modification Identification | Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein |
snp | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | SNP Detection | Determination of which nucleotide is base present at a known variable location of the genomic sequence |
str | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | STR count | Quantification of the number of sequential microsatellite units in a repetitive sequence region |
struc-var | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | Structural 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 |