Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A new method to measure the semantic similarity from query phenotypic abnormalities to diseases based on the human phenotype ontology.

BMC bioinformatics - 8 May 2018

Gong Xiaofeng, Jiang Jianping, Duan Zhongqu, Lu Hui

Abstract excerpt

BACKGROUND: Although rapid developed sequencing technologies make it possible for genotype data to be used in clinical diagnosis, it is still challenging for clinicians to understand the results of sequencing and make correct judgement based on them. Before this, diagnosis based on clinical features held a leading position. With the establishment of the Human Phenotype Ontology (HPO) and the enrichment of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Computer Simulation
Share to Databases as Topic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disease

Share to Phenotype

Share to Semantics

Source

Open in PubMed Open full text

Identifiers

PMID: 29745853
DOI: 10.1186/s12859-018-2064-y
PMCID: PMC5998886

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new method to measure the semantic similarity from query phenotypic abnormalities to diseases based on the human phenotype ontology.PMID 29745853Read ↗

Investigations on factors influencing HPO-based semantic similarity calculation.Semantic proximity Read ↗

Edge-based Method for Phenotype Similarity: Enhancing Genetic Disease Diagnosis through Graph-based Representation and AnalysisSemantic proximity Read ↗

HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology.Semantic proximity Read ↗

Phen2Disease: A Phenotype-driven Semantic Similarity-based Integrated Model for Disease and Gene PrioritizationSemantic proximity Read ↗

PSEA: A phenotypic similarity ensemble approach for prioritizes candidate genes to aid mendelian disease diagnosisSemantic proximity Read ↗

Novel phenotype-disease matching tool for rare genetic diseases.Semantic proximity Read ↗

Clinical diagnostics in human genetics with semantic similarity searches in ontologies.Semantic proximity Read ↗

A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases.Semantic proximity Read ↗

Phen2Disease: a phenotype-driven model for disease and gene prioritization by bidirectional maximum matching semantic similarities.Semantic proximity Read ↗

Calculating phenotypic similarity between genes using hierarchical structure data based on semantic similarity.Semantic proximity Read ↗

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.Semantic proximity Read ↗

Combining phenotypic similarity and network propagation to improve performance and clinical consistency of rare disease diagnosisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.