Genomic Study Type
draftURL
http://hl7.org/fhir/ValueSet/genomicstudy-type
Version5.0.0
PublisherHL7 (FHIR Project)Date2022-08-17T16:25:11-05:00DescriptionThe type of the GenomicStudy.
Expansion
| Code | Display | System |
|---|---|---|
| alt-splc | Alternative splicing detection | http://hl7.org/fhir/genomicstudy-type |
| chromatin | Chromatin conformation | http://hl7.org/fhir/genomicstudy-type |
| cnv | CNV detection | http://hl7.org/fhir/genomicstudy-type |
| epi-alt-hist | Epigenetic Alterations - histone modifications | http://hl7.org/fhir/genomicstudy-type |
| epi-alt-dna | Epigenetic Alterations -DNA methylation | http://hl7.org/fhir/genomicstudy-type |
| fam-var-segr | Familial variant segregation | http://hl7.org/fhir/genomicstudy-type |
| func-var | Functional variation detection | http://hl7.org/fhir/genomicstudy-type |
| gene-expression | Gene expression profiling | http://hl7.org/fhir/genomicstudy-type |
| post-trans-mod | Post-translational Modification Identification | http://hl7.org/fhir/genomicstudy-type |
| snp | SNP Detection | http://hl7.org/fhir/genomicstudy-type |
| str | STR count | http://hl7.org/fhir/genomicstudy-type |
| struc-var | Structural variation detection | http://hl7.org/fhir/genomicstudy-type |