Open cmungall opened 2 months ago
It looks like this is phenopackets is for an unreleased v1, not the current v2 standard.
Here is v1 on the pedigree
branch:
https://github.com/phenopackets/phenopacket-schema/blob/pedigree/src/main/proto/ga4gh/pedigree/v1/pedigree.proto
v2 is simpler: https://github.com/phenopackets/phenopacket-schema/blob/master/src/main/proto/phenopackets/schema/v2/core/pedigree.proto
The GA4GH Pedigree has been in flux for a while and I was trying to keep up with things using Phenopacket semantics for the conceptual model (https://github.com/phenopackets/phenopacket-schema/issues/333) rather than a standalone Pedigree schema which was originally proposed. The current Phenopacket-schema pedigree message (https://github.com/phenopackets/phenopacket-schema/blob/master/src/main/proto/phenopackets/schema/v2/core/pedigree.proto) predates the GA4GH Pedigree working group as it is the same as the Phenopacket-schema v1 pedigree (https://github.com/phenopackets/phenopacket-schema/blob/a22a652c9445de84e35eff9d393e9ec172442ec4/src/main/proto/phenopackets/schema/v1/base.proto#L367-L383) which is identical to a PED file.
OK, so I think the docs in this repo at least need qualified. It should say "here is an example of a pedigree in a proposed extension to the current phenopackets standard"
I'm looking at the documentation to see if I can understand whether the proposed Conceptual Model is equivalent to or more expressive than the Phenopackets Pedigree element.
The examples page here https://pedigree.readthedocs.io/en/latest/examples.html is potentially useful here, but I'm confused by it. It says
"As a Phenopacket GA4GHPedigree message:"
and then gives:
But this doesn't seem to be conformant with the phenopacket spec
It looks more like a variant of the CM here (but differs in the cardinality of
individual_id
).I think it would be very useful to look at examples of the same familiar relationships in different data models side by side, but I'm not totally sure what I am looking at here