Michael Baudis

@mdmiller53 Yes, exactly. There are many things where documentation will be a very important element of efficient use.

Speaking for the Beacon side: We follow the "service-info at entity level" format. E.g. ``` /map /service-info /biosamples/{id} /g_variants/{id}/biosamples ``` ... etc.

+1 for @mcupak 's detailed explanation.

Just chiming in here w/ opinion that tandem duplications & repeat expansions are *different* from CNVs & should be considered (a) separate entit(y|ies) (e.g. having annotations from sequence, times). Otherwise...

> I might add that there's also the option to use for a duplication if you know it exists but aren't sure if it's tandem or not, or if you...

@julesjacobsen Thanks for the summary, which captures the core of it! There is an additional component - even if Phenopackets would provide the JSON Schema instances for individual schemas like...

And the {S}[B] schemas point clearly to the donor schema, authors, documentation ... as the authoritative version. But ideally we'd have a setup in which GA4GH devs support the translation,...

@pnrobinson We have coded to ICD-O for ~20ys; and my original interest in ontologies w/ CURIEs started from the lack of those for ICD-O, when writing the OntologyTerm use into...

@pnrobinson @julesjacobsen As much as I love ICD-O, I would drop it here since it requires coding of 2 arms & does not exist in a "ontologized" form. You can...

@julesjacobsen For Cancer it is [NCIT:C3262](https://www.ebi.ac.uk/ols/ontologies/ncit/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FNCIT_C3262) (I don't have to look this up :-) I.e. "Neoplasm" root term, which covers also benign neoplasms.