Predicting disease-related phenotypes using an integrated phenotype similarity measurement based on HPO

pBRIT: gene prioritization by correlating functional and phenotypic annotations through integrative data fusion

(2018) Ajay Anand Kumar et al.   BIOINFORMATICS

Measuring phenotype-phenotype similarity through the interactome

(2018) Jiajie Peng et al.   BMC BIOINFORMATICS

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

(2018) Nicolas Garcelon et al.   Orphanet Journal of Rare Diseases

An online tool for measuring and visualizing phenotype similarities using HPO

(2018) Jiajie Peng et al.   BMC GENOMICS

A novel method to measure the semantic similarity of HPO terms

(2017) Jiajie Peng et al.   International Journal of Data Mining and Bioinformatics

Investigations on factors influencing HPO-based semantic similarity calculation

(2017) Jiajie Peng et al.   Journal of Biomedical Semantics

InteGO2: a web tool for measuring and visualizing gene semantic similarities using Gene Ontology

(2016) Jiajie Peng et al.   BMC GENOMICS

DisSim: an online system for exploring significant similar diseases and exhibiting potential therapeutic drugs

(2016) Liang Cheng et al.   Scientific Reports

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

(2015) Tudor Groza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Measuring semantic similarities by combining gene ontology annotations and gene co-function networks

(2015) Jiajie Peng et al.   BMC BIOINFORMATICS

HPOSim: An R Package for Phenotypic Similarity Measure and Enrichment Analysis Based on the Human Phenotype Ontology

(2015) Yue Deng et al.   PLoS One

GOssTo: a stand-alone application and a web tool for calculating semantic similarities on the Gene Ontology

(2014) H. Caniza et al.   BIOINFORMATICS

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

(2014) Aaron J Masino et al.   BMC BIOINFORMATICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

(2014) T. Zemojtel et al.   Science Translational Medicine

Measuring gene functional similarity based on group-wise comparison of GO terms

(2013) Z. Teng et al.   BIOINFORMATICS

Semantic similarity in the biomedical domain: an evaluation across knowledge sources

(2012) Vijay N Garla et al.   BMC BIOINFORMATICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

PhenomeNET: a whole-phenome approach to disease gene discovery

(2011) R. Hoehndorf et al.   NUCLEIC ACIDS RESEARCH

An ontology-based measure to compute semantic similarity in biomedicine

(2010) Montserrat Batet et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

(2009) Sebastian Köhler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrating phenotype and gene expression data for predicting gene function

(2009) Brandon M Malone et al.   BMC BIOINFORMATICS

Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation

(2009) Nicole L. Washington et al.   PLOS BIOLOGY

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Metrics for GO based protein semantic similarity: a systematic evaluation

(2008) Catia Pesquita et al.   BMC BIOINFORMATICS