ExomeDX: WES analysis geared to patient phenotype. HPO Clinical data encoded with Human Phenotype Ontology. Causal Variant identification in Germline (Mutations + CNVS)

ExomeDX – TRIO: WES analysis geared to patient phenotype. HPO Clinical data encoded with Human Phenotype Ontology. Causal Variant identification in Germline (Mutations + CNVS)