We focus on the identification and characterization of pathogenic sequence variants in patients with rare genetic diseases. For the prioritization of candidate mutations we consider their impact on the structural organization of the genome and the phenotype of the patient. Deep phenotyping is based on automated face recognition.

Note, that most of previous content moved to the Phenomics-Berlin team page (phenotype-ontology related projects) and to the new page of Prof. Robinsons group at the JAX.