phenopackets / phenopacket-format

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patient history representation #93

Open mellybelly opened 7 years ago

mellybelly commented 7 years ago

We need to not only be able to represent the phenotypic profile of a patient or group of patients, but also their organismal history. This includes relationships to other patients #7 and #14 encoded in PED files, but also means a temporal representation of the organism's life.

In addition to the abnormal phenotypic profile, this representation would include non-abnormal phenotypes such as might be recorded using OBA, as well as environmental influences.

We should especially think carefully about how to represent the organism during pregnancy - from both baby and mother's perspective. Also need to consider oviparous organisms and monotremes, but lets cross this bridge later and focus first on mammals.

Stage ontologies are robust and could create examples using these as a start.