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:

  • NC_000016.9:g.70211173A>G
  • NM_001605.2:c.2987T>C
  • NP_001596.2:p.(Glu05=)