News-Beitrag vom 26. August 2015

Integration of Human Phenotype Ontology (HPO)

Human Phenotype Ontology (HPO) is a standardized ontology for a detailed description of human phenotypes. It was developed under the guidance of Prof. Dr. Peter Robinson, Institut für Medizinische Genetik, Universitätsmedizin Berlin Charité,

HPO has been integrated into the laboratory information system (LIMS) GEPADO Xpro human genetics. The HPO database can be imported periodically, so that GEPADO Xpro will always be up to date with the current published version.
HPO data are searchable within GEPADO Xpro human genetics utilizing a category-based as well as a full-text search engine. Results are stored as symptoms for a patient at a given time and could be used for all functionality including reports, searches and statistics. We hope that this new feature will help you for all your counseling needs as well as for phenotype-genotype correlations. We are interested to hear back from you on your experience!