This code system http://hl7.org/fhir/genomicstudy-type 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
<status value="active"/><experimental value="true"/><date value="2022-08-17T16:19:24-05:00"/><publisher value="HL7 (FHIR Project)"/><contact><telecom><system value="url"/><value value="http://hl7.org/fhir"/></telecom><telecom><system value="email"/><value value="fhir@lists.hl7.org"/></telecom></contact><description value="The type relevant to GenomicStudy."/><jurisdiction><coding><system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/><code value="001"/><display value="World"/></coding></jurisdiction><caseSensitive value="true"/><valueSet value="http://hl7.org/fhir/ValueSet/genomicstudy-type"/><content value="complete"/><concept><code value="alt-splc"/><display value="Alternative splicing detection"/><definition value="Identification of multiple different processed mRNA transcripts from the same DNA template"/></concept><concept><code value="chromatin"/><display value="Chromatin conformation"/><definition value="Analysis of the spacial organization of chromatin within a cell"/></concept><concept><code value="cnv"/><display value="CNV detection"/><definition value="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"/></concept><concept><code value="epi-alt-hist"/><display value="Epigenetic Alterations - histone modifications"/><definition value="Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression"/></concept><concept><code value="epi-alt-dna"/><display value="Epigenetic Alterations -DNA methylation"/><definition value="Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription"/></concept><concept><code value="fam-var-segr"/><display value="Familial variant segregation"/><definition value="Determining if a variant identified in an individual is present in other family members"/></concept><concept><code value="func-var"/><display value="Functional variation detection"/><definition value="Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence"/></concept><concept><code value="gene-expression"/><display value="Gene expression profiling"/><definition value="Measurement and characterization of activity from all gene products"/></concept><concept><code value="post-trans-mod"/><display value="Post-translational Modification Identification"/><definition value="Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein"/></concept><concept><code value="snp"/><display value="SNP Detection"/><definition value="Determination of which nucleotide is base present at a known variable location of the genomic sequence"/></concept><concept><code value="str"/><display value="STR count"/><definition value="Quantification of the number of sequential microsatellite units in a repetitive sequence region"/></concept><concept><code value="struc-var"/><display value="Structural variation detection"/><definition value="Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence"/></concept></CodeSystem>