This code system http://hl7.org/fhir/genomicstudy-type defines the following codes:

Code Display Definition
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
<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>