{"caseSensitive":true,"concept":[{"code":"alt-splc","definition":"Identification of multiple different processed mRNA transcripts from the same DNA template","display":"Alternative splicing detection"},{"code":"chromatin","definition":"Analysis of the spacial organization of chromatin within a cell","display":"Chromatin conformation"},{"code":"cnv","definition":"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","display":"CNV detection"},{"code":"epi-alt-hist","definition":"Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression","display":"Epigenetic Alterations - histone modifications"},{"code":"epi-alt-dna","definition":"Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription","display":"Epigenetic Alterations -DNA methylation"},{"code":"fam-var-segr","definition":"Determining if a variant identified in an individual is present in other family members","display":"Familial variant segregation"},{"code":"func-var","definition":"Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence","display":"Functional variation detection"},{"code":"gene-expression","definition":"Measurement and characterization of activity from all gene products","display":"Gene expression profiling"},{"code":"post-trans-mod","definition":"Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein","display":"Post-translational Modification Identification"},{"code":"snp","definition":"Determination of which nucleotide is base present at a known variable location of the genomic sequence","display":"SNP Detection"},{"code":"str","definition":"Quantification of the number of sequential microsatellite units in a repetitive sequence region","display":"STR count"},{"code":"struc-var","definition":"Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence","display":"Structural variation detection"}],"contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"},{"system":"email","value":"fhir@lists.hl7.org"}]}],"content":"complete","date":"2022-08-17T16:19:24-05:00","description":"The type relevant to GenomicStudy.","experimental":true,"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"cg"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"trial-use"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":1}],"id":"genomicstudy-type","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.4.1975"}],"jurisdiction":[{"coding":[{"code":"001","display":"World","system":"http://unstats.un.org/unsd/methods/m49/m49.htm"}]}],"meta":{"lastUpdated":"2023-03-25T23:21:02.749-05:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"]},"name":"GenomicStudyType","publisher":"HL7 (FHIR Project)","resourceType":"CodeSystem","status":"active","text":{"div":"

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":"generated"},"title":"Genomic Study Type","url":"http://hl7.org/fhir/genomicstudy-type","valueSet":"http://hl7.org/fhir/ValueSet/genomicstudy-type","version":"5.0.0"}