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- NCIT_C18302 IAO_0000115 "The identification of genetic variation in a biological sample." @default.
- NCIT_C18302 NCIT_NHC0 "C18302" @default.
- NCIT_C18302 NCIT_P106 "Laboratory Procedure" @default.
- NCIT_C18302 NCIT_P107 "Mutation Analysis" @default.
- NCIT_C18302 NCIT_P108 "Genetic Variation Analysis" @default.
- NCIT_C18302 NCIT_P207 "C0796357" @default.
- NCIT_C18302 NCIT_P322 "CDISC" @default.
- NCIT_C18302 NCIT_P322 "CTRP" @default.
- NCIT_C18302 NCIT_P325 "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." @default.
- NCIT_C18302 NCIT_P366 "Mutation_Analysis" @default.
- NCIT_C18302 normalizedInformationContent "73.131390272436164" @default.
- NCIT_C18302 referenceCount "58" @default.
- NCIT_C18302 hasExactSynonym "Genetic Variation Analysis" @default.
- NCIT_C18302 hasExactSynonym "Mutation Analysis" @default.
- NCIT_C18302 hasExactSynonym "mutation analysis" @default.
- NCIT_C18302 inSubset NCIT_C116977 @default.
- NCIT_C18302 inSubset NCIT_C118169 @default.
- NCIT_C18302 inSubset NCIT_C142799 @default.
- NCIT_C18302 type Class @default.
- NCIT_C18302 isDefinedBy ncit.owl @default.
- NCIT_C18302 label "Genetic Variation Analysis" @default.
- NCIT_C18302 subClassOf NCIT_C16203 @default.
- NCIT_C18302 subClassOf NCIT_C16623 @default.
- NCIT_C18302 subClassOf NCIT_C16847 @default.
- NCIT_C18302 subClassOf NCIT_C18302 @default.
- NCIT_C18302 subClassOf NCIT_C19235 @default.
- NCIT_C18302 subClassOf NCIT_C19770 @default.
- NCIT_C18302 subClassOf NCIT_C20368 @default.
- NCIT_C18302 subClassOf NCIT_C25218 @default.
- NCIT_C18302 subClassOf NCIT_C25294 @default.
- NCIT_C18302 subClassOf NCIT_C43431 @default.