mbrush
commented
7 years ago On 3-21-17 call, we decided that ClinGen would not assert a direction for evidence in its v1 model.
ClinGen will just use the more generic has_evidence relation. The directionality can be inferred based on information built into the CriterionAssessment description (i.e. its P vs B direction and how this alignes with the direction of the supported VariantInterpretation, and whether the CA was met or unmet or refuted).
For v2 of the model, we will revisit how we want to capture the directionality - as this is an important aspect for SEPIO integration and analysis use cases. e.g. we want to easily query for all evidence lines that support vs refute a target assertion. Ultimately it may not be something that CG tool users assert themselves, but something that is derived/inferred using a set of rules that leverage the information that does get asserted.
SEPIO needs to be able to describe evidence 'direction' - to indicate when a particular line of evidence is supporting, refuting, or provides inconclusive information relative to a target assertion. The current SEPIO model captures this information via the relationship is used to link an assertion to an evidence line (has_supporting_evidence, has_refuting_evidence, has_inconclusive evidence).
An alternate approach is to describe directionality as an attribute of an EvidenceLine. Here we would create attribute terms (Supporting, Refuting, Inconclusive) that can be hung from an EvidenceLine to describe the direction of support it provides its target assertion.