search

clingen-data-model / VCI-transformation

Scripts for transforming VCI JSON-LD into DMWG Interpretation JSON-LD
1 stars 1 forks source link

Modeling SVC v4 guidelines #10

Open dazzariti opened 12 months ago

dazzariti commented 12 months ago

Larry working with Steven and Alicia on the Sequence Variant Classification v4 guideline modeling.

The goal of this ticket is to be able to represent as much (or most) of the ACMG v4 evidence codes and associations to the points and scoring so that it can provide a foundation for how Stanford, Baylor, B/G, UNC dev teams communicate with the designers (Steven, Alicia and the other Variant scientists/curators).

This will be a draft set of relational tables with data implemented in google sheets.

The aim will be to enter some characteristics for example target variants and made up evidence findings (cases, comparable variants, etc...) to see how the different accounting of evidence codes/points are captured, rolled up, capped, max-d (or min-d) and finally totaled on a master rubric. (but it will be somewhat rough until we get consensus from all players this is worthwhile.

larrybabb commented 5 months ago

This is an ongoing weekly modeling activity with the VCI and Baylor devs. We can close this once we have a material form of a data model that we consider MVP. It may take a few months ;).