Currently, we have evidence on the phenotype profile:
phenotype_profile:
entity: "doi: 10.1101/mcs.a000661#patient1"
evidence:
type: TAS # Traceable author statement
source:
id: "doi: 10.1101/mcs.a000661"
title: "De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features"
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".
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".