-
Here we consider the types of higher-order **clinical significance** annotations that link 'variants' to 'conditions' to which they might contribute or impact clinical management of, and which we migh…
-
Clinical Significance - current clinical significance does not adequately support the needs for somatic variant information.
- Current set of values defined by LOINC
-
Initial notes on proposed scope and definition of these VA type, based on requirements and considerations documented [here](https://docs.google.com/document/d/1J4AqGDEqyK8KAzfiowgHYKJNvzHuwHSHgkN9dleL…
-
Should we consider an allelic requirement qualifier on variant pathogenicity interpretations that would allow us to capture how many copies of a variant would be required to cause the indicated diseas…
-
The **'Case-Control' Annotation Type** we proposed a Variant Annotation category in our initial list [here](https://docs.google.com/document/d/1csUrC4kX6G1V1GIz07btQQ3oL_cdDPJShuauL_uCjEw/edit#headin…
-
@mbrush Can we dig into the stength, confidence and outcome associations that have been drafted on the 3-15-17 ClinGen cmap at our next Tuesday meeting?
I'd like to sort this out.
1) Is confidenc…
-
Clinical Significance should mention the new Oncogenic evidence type
>Positive or negative association of the Variant with predictive, prognostic, diagnostic, or predisposing evidence types. If the v…
-
### Background
Following Variation Set discussions at the Boston Plenary, it was decided that VR will only provide a model for **static** Variation Sets - as simple objects holding just an enumerated…
-
The 'At-A-Glance' (AAG) idea refers to a set of 4-5 edge properties that provide a high level EPC summary, allowing users to make a first pass assessment of confidence and relevance for a given KG Edg…