Genetic Variation Analysis

Preferred Label : Genetic Variation Analysis;

NCIt synonyms : Mutation Analysis;

NCIt definition : The identification of genetic variation in a biological sample.;

Alternative definition : NCI-GLOSS: Germline genetic testing method targeted to detect a specific mutation (such as a deleterious MSH2 mutation previously identified in a family), panel of mutations (such as the 3 BRCA mutations comprising the founder mutation panel for individuals of Ashkenazi Jewish ancestry) or type of mutation (such as a large deletions or insertions in the BRCA1 gene). This type of testing is distinct from complete gene sequencing or mutation scanning. The latter are designed to detect most mutations in the region being tested. Current usage also applies this term to any genetic test.;

Codes from synonyms : CDR0000460195;

Details

Origin ID

C18302;

UMLS CUI

C0796357;

Automatic exact mappings (from CISMeF team)
- Genetic variation [EDAM topic]
- Genetic variation (finding) [SNOMED CT concept]
- Genetic variation analysis [EDAM operation]
- genetic variation [MeSH Descriptor]
- genetic variation [MeSH concept]
- genetic variation [SNOMED Notion]
- genetic variation [COVID-19 Thesaurus concept]
Semantic type(s)
- Laboratory Procedure [UMLS semantic type]
UMLS correspondences (same concept)
- targeted mutation analysis [LOINC part]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Intervention Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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