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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

# concept[].definition
Identification of multiple different processed mRNA transcripts from the same DNA template

# concept[].definition
Analysis of the spacial organization of chromatin within a cell

# concept[].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

# concept[].display
Epigenetic Alterations - histone modifications

# concept[].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

# concept[].definition
Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription

# concept[].definition
Determining if a variant identified in an individual is present in other family members

# concept[].definition
Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence

# concept[].definition
Measurement and characterization of activity from all gene products

# concept[].definition
Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein

# concept[].definition
Determination of which nucleotide is base present at a known variable location of the genomic sequence

# concept[].definition
Quantification of the number of sequential microsatellite units in a repetitive sequence region

# concept[].definition
Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence