Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. 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-ballot
Active as of 2023-12-18 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:

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 detectionIdentification of multiple different processed mRNA transcripts from the same DNA template
chromatin Chromatin conformationAnalysis of the spacial organization of chromatin within a cell
cnv CNV 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-hist Epigenetic 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-dna Epigenetic Alterations -DNA methylationDetection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription
fam-var-segr Familial variant segregationDetermining if a variant identified in an individual is present in other family members
func-var Functional variation detectionDetection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence
gene-expression Gene expression profilingMeasurement and characterization of activity from all gene products
post-trans-mod Post-translational Modification IdentificationDetection of biochemical modifications covalently bound to the amino acid monomers of a processed protein
snp SNP DetectionDetermination of which nucleotide is base present at a known variable location of the genomic sequence
str STR countQuantification of the number of sequential microsatellite units in a repetitive sequence region
struc-var Structural variation detectionDetection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence