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Code
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Display
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Definition
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prognostic-implication
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Prognostic Implication |
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. |
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associated-therapy
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Associated Therapy |
The non-medication therapy (procedure) associated with this implication. |
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region-coverage
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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. |
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molecular-consequence
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Molecular Consequence |
The calculated or observed effect of a DNA variant on its downstream transcript and, if applicable, ensuing protein sequence. |
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feature-consequence
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Feature Consequence |
The structural implications of a variant (e.g. the variant disrupts a regulatory region, the variant is an inframe insertion). |
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diagnostic-implication
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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. |
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therapeutic-implication
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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. Ramifications may include alterations in drug metabolism (or pharmacokinetics) that determine the concentration of the drug, prodrug, and/or break-down products over time; alterations in drug efficacy (or pharmacodynamics) that determine how effective a drug is at a given concentration; alterations that alter the risk of adverse drug events, or other types of implications that indicate altered responsiveness to other types of therapies. |
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uncallable-regions
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Uncallable Regions |
Contiguous regions where a call was not made. Must be inside the range given by 'ranges examined' in the given reference sequence and coordinate system. |
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functional-effect
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Functional Effect |
The effect of a variant on downstream biological products or pathways (from Sequence Ontology). |
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conclusion-string
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Conclusion Text |
Clinical conclusion (interpretation) of the observation. |
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condition-inheritance
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Condition Inheritance |
The transmission pattern of the condition/phenotype in a pedigree. |
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variant-confidence-status
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Variant Confidence Status |
The confidence of a true positive variant call. |
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repeat-motif
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Repeat Expansion Motif |
Nucleotides of a repeat expansion motif |
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repeat-number
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Number of Repeat Expansions |
Number of repeats of a repeat expansion |