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Define rules for determining 'direction' of evidence provided by Criterion Assessments

Open mbrush opened this issue 7 years ago • 2 comments

In the ClinGen Interpretation data model that is currently being aligned with SEPIO, CriterionAssessments are assertions based on ACMG Criteria that are used as a first tier of evidence for Variant Interpretations. There are a number of different possibility that can result from a given CriterionAssessment, depending on whether the ACMG criterion used is: (1) determined to be met, unmet, or refuted; and (2) how the class of criterion used (P vs B) aligns with the final call made in the target Variantinterpretation.

In short, we will have to translate the outcome for a CriterionAssessment used as evidence (i.e. whether a B or P criterion is met or unmet for a VariantInterpretation of benign or pathogenic), into a directionality for the relationship used in linking the VariantInterpretation to its CA-supported EvidenceLine (i.e. whether the CA provides supporting, refuting, or inconclusive evidence).

We have had initial discussions on this topic, as documented in the 2-23-17 cmap here.

mbrush avatar Mar 21 '17 00:03 mbrush