Comments (2)
Presumably the phenopacket would include some information about the entity being associated? E.g. a patient (corresponding to the VCF) or a variant (corresponding to a causal variant hypothesis derived in part from the VCF).
This could lead to some redundancy between the contents of the VCF and of the ppk. Which may be fine, just needs documented
from phenopacket-format.
See also #22
from phenopacket-format.
Related Issues (20)
- Is generated protobuf schema useful? HOT 2
- Add links to presentations in README
- date/time formats HOT 1
- Map to RSML
- Add example for representing when an entity is a model of a disease
- Rename 'type' HOT 14
- doi link is broken
- Add doc for how species vs. organism instances are represented HOT 1
- Define mapping to a disease association file (DAF)
- make metabolomics example
- Use of evidence codes HOT 2
- Type of 'entity' HOT 1
- Add "sample" type for entities
- Document relationship to minimal information efforts such as MIAPPE
- Info field in PXF? HOT 1
- Back reference to original sample ID from PXF?
- modeling cohort, no individual data available? HOT 2
- patient history representation
- Help with capturing some statements in PXF HOT 1
- Metadata.html
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