clingen-data-model / clingen-interpretation

Allele (variant) interpretation model and API for ClinGen
3 stars 1 forks source link

Review Technical Documentation #115

Closed larrybabb closed 6 years ago

larrybabb commented 7 years ago

This will change due to SEPIO rework of terms.

cbizon commented 6 years ago

I've gone through and added text and pages to everything I could. There are a few things that are not done:

1) Molecular Consequence / Mechanism: not sure what's going on there. 2) IndividualAllele: zygosity etc 3) Coding/CodeableConcept/ValueSet: Don't know what we want.