phenopacket-format
phenopacket-format copied to clipboard
phenopackets
We need to be able to specify age at the time of phenotype capture, as well as DOB, or a range, or none. Many times age or DOB may not...
the current proposal typically follows referencing by key value over nesting, for entities. This has some advantages - representation of entities can be shifted to a different document, and referenced...
There are two types of versioning we need to consider: representational and temporal. ## 1) Representational Evolution due to change in ontology or scientific understanding. (Perhaps even to correct an...
Should the standard make any effort to standardize the ways that patient identifiers are represented? Eg. for a paper, is it adequate to say "patient 1"? This is a bag...
YAML allows us to reference the same object (first mention with `&`, future with `*`). While we currently use this in the schema, this may be problematic in the packets....
Could VCF files have a file header that points at a phenopacket DOI? This could be nice and flexible as you could have other types of things you might want...
Hi Tudor, as we are discussing right now here are some suggestions 1. Allow users to upload either word or to paste in text into a window. 2. After initial...
negation not handled in schema: ``` phenotype: type: not: id: HP:0001608 label: Abnormality of the voice ``` does not validate
"Slavotinek et al. [6] have reviewed the phenotypes associated with 2q24-2q31 and 2q31-33 deletions. The 2q31.1 region includes the HOXD cluster, one of four highly evolutionally conserved, homologous gene clusters...