HPO – THE HUMAN PHENOTYPE ONTOLOGY structural biology technologies/software services

Provided by HPO - THE HUMAN PHENOTYPE ONTOLOGY

HPO provides an ontology of medically relevant phenotypes, disease-phenotype annotations, and the algorithms that operate on these to allow large-scale computational analysis of the human phenome. The HPO can be used to support differential diagnostics, translational research, and a number of applications in computational biology by providing the means to compute over the clinical phenotype. The HPO is being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. Although initially focused on rare, mainly Mendelian diseases, the focus of the HPO will be extended to other areas of medicine in coming years.
Tools:
* Exomiser: evaluate variants based on the predicted pathogenicity
*genomiser: analyze genome sequence data for non-coding variants
* phenomizer: rank disease differential diagnosis by clinical features
*profile search: discover diseases with a phenotype profile

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