Advanced analytical features

Some examples of the advanced features built into the analysis:

  • The Genome-Phenome Analyzer knows about pseudoautosomal genes, not just ones that produce a protein.
  • There is a detailed model of X-linked inheritance, reflecting the fact that a disease can be somewhere in-between X-linked dominant and X-linked recessive, and even have some findings of each type as in X-linked adrenoleukodystrophy, where the hormonal deficiency is recessive but the axonopathy is dominant. .