Preferred Name | Genomic Biomarker | |
Synonyms |
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|
Definitions |
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). |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C68753 |
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code |
C68753 |
|
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). |
|
label |
Genomic Biomarker |
|
Legacy Concept Name |
Genomic_Biomarker |
|
Preferred_Name |
Genomic Biomarker |
|
prefixIRI |
NCIT:C68753 |
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prefLabel |
Genomic Biomarker |
|
Semantic_Type |
Indicator, Reagent, or Diagnostic Aid |
|
UMLS_CUI |
C2348747 |
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subClassOf |
Delete | Mapping To | Ontology | Source |
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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C68753 | NCIT | LOOM | |
http://doe-generated-ontology.com/OntoAD#C2348747 | ONTOAD | LOOM | |
http://purl.jp/bio/4/id/201106056916435100 | IOBC | LOOM |