phenopackets / phenopacket-format

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Further refine evidence references #34

Closed mellybelly closed 8 years ago

mellybelly commented 8 years ago

Currently, we have evidence on the phenotype profile: phenotype_profile:

Does evidence go on any element? e.g. a phenotype profile, a genotype profile, a PED/Family reference? Does it go on individual phenotypes? Or does the whole phenopacket get just one or more evidence assertions?

We should also further decide how/which evidence codes to use and what source information should be described with different evidence codes. @mbrush can you help define a few. E.g. is TAS good here? For OMIM, the example has an IEA, for patient example1, it says "observation".

cmungall commented 8 years ago

The mapping between shortforms (e.g. TAS) and class IRIs should go in the LD-context #40