Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.

This article explains how to choose an optimal set of HPO terms for these cases and enter them with software, such as PhenoTips and PatientArchive, and demonstrates how to use Phenomizer and Exomiser to generate a computational differential diagnosis. © 2019 by John Wiley & Sons, Inc. PMID: 31479590 [PubMed - in process]
Source: Current Protocols in Human Genetics - Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research