Consider using ontology-specific zygosity terms

ga4gh / mme-apis

Documentation for the MatchmakerExchange APIs

https://github.com/ga4gh/mme-apis

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Consider using ontology-specific zygosity terms #16

Open Relequestual opened 9 years ago

Relequestual commented 9 years ago

Nicole Washington 18:32 10 Nov

you might consider using ontology-specified zygosity terms here.

Orion Buske 18:33 10 Nov

+1 Which ontology/terms would that be?

Nicole Washington 20:36 10 Nov

we have these in GENO, which we're about to make public. i will get you a link when public.

Orion Buske 02:18 11 Nov

Great! Thanks, Nicole!

Relequestual commented 9 years ago

Was this resolved?

buske commented 9 years ago

GENO is now available at: https://github.com/monarch-initiative/GENO-ontology/blob/develop/src/ontology/geno.owl

I suggest we define the zygosity field as an OntologyTerm descendant of: GENO_0000133 [zygosity], but highlight the following three options in the description:

GENO:0000135 [heterozygous]
GENO:0000136 [homozygous]
GENO:0000134 [hemizygous]

fschiettecatte commented 7 years ago

Following the Baltimore MME meeting, this was deferred to 2.0