Pedigree exchange implementation guide
The model represented by this specification, shows in the following diagram:
- Individual: a person, can be a patient or a relative of the patient.
- Family: a group of 2 individuals (parents). Childs must be specififed using BioFam or AdoFam atributes of the Individual resource.
- Twin: a group of individuals that be twins.
- Diagnosis: a condition, that represents a diagnosis of an Individual.
- Test: an observation, that represents a medical test done to an Individual.
- Variant: an observation, that represents a variant of an Individual
- Pedigree: a collection of the above elements, that conform the definition of pedigree.
The variants must be named with the prefix NM_, NC_, NP_ in order to identify the variant correctly. For example: