Code | Display | Definition |
grouper | grouper | A means to bundle several observations such as one would find in a genetics test panel. |
mode-of-inheritance | mode-of-inheritance | This is actually LOINC code 79742-3. And the IG will be updated |
effect-transporter-function | effect-transporter-function | Predicted phenotype for drug efficacy through transport mechanism. A single marker interpretation value known to increase or decrease the drug's performance. |
effect-medication-efficacy | Medication Efficacy | |
effect-medication-metabolism | Medication Metabolism | |
effect-medication-transporter | Medication Transporter Function | |
effect-high-risk-allele | High Risk Allele | |
prognostic-implication | Prognostic Implication component | Finding of whether a particular somatic genotype/haplotype/variation or combination-thereof predicts a particular outcome for the specified cancer - either on its own or in conjunction with one or more interventions. |
associated-cancer | associated-cancer | |
associated-therapy | Genomically linked therapy | The non-medication therapy (procedure) associated with this implication. |
region-coverage | region-coverage | Given as a number between 0 and 100. Mean mapped read depth. Obtained by counting total number of mapped reads and divided by the number of bases in the region sequence. |
functional-annotation | functional-annotation | Annotated changes to sequence features caused by this variant. Terms are from the sequence ontology under SO:0001537. |
exact-start-end | Variant exact start and end | The genomic coordinates of the exact genomic range in which the variant resides. |
inner-start-end | Variant inner start and end | The genomic coordinates of the inner genomic range in which the variant might reside. |
outer-start-end | Variant outer start and end | The genomic coordinates of the outer genomic range in which the variant might reside. |
variant-inheritance | Variant inheritance | A quality inhering in a variant by virtue of its origin. The terms are in the sequence ontology under SO:0001762. |
diagnostic-implication | Diagnostic Implication | An observation linking a genomic finding with a knowledge base, providing context that may aid in diagnosing a patient with a particular phenotype or condition. |
therapeutic-implication | Therapeutic Implication | An observation linking a genomic finding with a knowledge base, providing potential evidence of an interaction with a specified medication or non-medicinal therapy. |