Predicting disease-related phenotypes using an integrated phenotype similarity measurement based on HPO.
Journal:
BMC systems biology
Published Date:
Apr 5, 2019
Abstract
BACKGROUND: Improving efficiency of disease diagnosis based on phenotype ontology is a critical yet challenging research area. Recently, Human Phenotype Ontology (HPO)-based semantic similarity has been affectively and widely used to identify causative genes and diseases. However, current phenotype similarity measurements just consider the annotations and hierarchy structure of HPO, neglecting the definition description of phenotype terms.