Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

CodeSystem: Genomic Study Type CodeSystem (Experimental)

Official URL: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs Version: 3.0.0
Active as of 2024-12-12 Computable Name: GenomicStudyTypeCS

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

This Code system is referenced in the content logical definition of the following value sets:

Generated Narrative: CodeSystem genomic-study-type-cs

This case-sensitive code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs defines the following codes:

CodeDisplayDefinition
alt-splc Alternative splicing detection Identification of multiple different processed mRNA transcripts from the same DNA template
chromatin Chromatin conformation Analysis of the spacial organization of chromatin within a cell
cnv 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 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 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 Familial variant segregation Determining if a variant identified in an individual is present in other family members
func-var Functional variation detection Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence
gene-expression Gene expression profiling Measurement and characterization of activity from all gene products
post-trans-mod Post-translational Modification Identification Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein
snp SNP Detection Determination of which nucleotide is base present at a known variable location of the genomic sequence
str STR count Quantification of the number of sequential microsatellite units in a repetitive sequence region
struc-var Structural variation detection Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence