Human phenotype ontology annotation and cluster analysis for pulmonary atresia to unravel clinical outcomes.

ABSTRACT:

Background

Pulmonary atresia (PA) is a heterogeneous congenital heart defect and ventricular septal defect (VSD) is the most vital factor for the conventional classification of PA patients. The simple dichotomy could not fully describe the cardiac morphologies and pathophysiology in such a complex disease. We utilized the Human Phenotype Ontology (HPO) database to explore the phenotypic patterns of PA and the phenotypic influence on prognosis.

Methods

We recruited 786 patients with diagnoses of PA between 2008 and 2016 at Fuwai Hospital. According to cardiovascular phenotypes of patients, we retrieved 52 HPO terms for further analyses. The patients were classified into three clusters based on unsupervised hierarchical clustering. We used Kaplan-Meier curves to estimate survi

SUBMITTER: Shu B 

PROVIDER: S-EPMC9372274 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature