clingen-data-model / clingen-interpretation

Allele (variant) interpretation model and API for ClinGen
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Check definitions for SEPIO #124

Closed cbizon closed 7 years ago

cbizon commented 7 years ago

Specifically - Segregation

cbizon commented 7 years ago

Also see canonical/contextual defs here:

https://docs.google.com/document/d/1yMnJnnGMard0Cqu86Cx0gv7gX0b0RaAjgU7Zl8ucxnQ/edit#heading=h.4sdrnbsyn1z5

cbizon commented 7 years ago

Check on zygosity

cbizon commented 7 years ago

Specifically - do we have instances of IndividualAllele where we only look at zygosity of an allele?

cbizon commented 7 years ago

What are the allowed values of categoricl insilico predictions

cbizon commented 7 years ago

I've commented on the spreadsheet and/or notes for all of these issues.