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AttributesValues
rdf:type
rdfs:label
  • Genomic Biomarker
rdfs:subClassOf
Semantic_Type
  • Indicator, Reagent, or Diagnostic Aid
Preferred_Name
  • Genomic Biomarker
UMLS_CUI
  • C2348747
Legacy_Concept_Name
  • Genomic_Biomarker
FULL_SYN
  • Genomic BiomarkerPTNCI
DEFINITION
  • A measurable DNA or RNA characteristic that is an indicator of normal biologic processes, pathogenic processes, and/or response to therapeutic or other intervention. The definition for a genomic biomarker is not limited to human samples. A genomic biomarker could, for example, reflect: the expression of a gene; the function of a gene; the regulation of a gene. A genomic biomarker can consist of one or more deoxyribonucleic acid (DNA) or ribonucleic acid (RNA) characteristics. The definition for a genomic biomarker does not include the measurement and characterisation of proteins or low molecular weight metabolites. DNA characteristics include, but are not limited to: single nucleotide polymorphisms (SNPs); variability of short sequence repeats; DNA modification, e.g., methylation; insertions; deletions; copy number variation; cytogenetic rearrangements, e.g., translocations, duplications, deletions or inversions. RNA characteristics include, but are not limited to: RNA sequence; RNA expression levels; RNA processing, e.g., splicing and editing; microRNA levels (ICH Draft Consensus Guideline E15).NCI
code
  • C68753
is rdfs:subClassOf of
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