• Include these codes as defined in http://hl7.org/fhir/genomicstudy-type version 📍5.0.0

  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-dna	Epigenetic Alterations -DNA methylation	Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription
  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
  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

This value set expansion contains 12 concepts.