AIMC Topic: Disease
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SFM: A novel sequence-based fusion method for disease genes identification and prioritization.
Journal of theoretical biology
Jul 21, 2015
The identification of disease genes from human genome is of great importance to improve diagnosis and treatment of disease. Several machine learning methods have been introduced to identify disease genes. However, these methods mostly differ in the p...
A literature-driven method to calculate similarities among diseases.
Computer methods and programs in biomedicine
Jul 9, 2015
BACKGROUND: "Our lives are connected by a thousand invisible threads and along these sympathetic fibers, our actions run as causes and return to us as results". It is Herman Melville's famous quote describing connections among human lives. To paraphr...
HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology.
PloS one
Feb 9, 2015
BACKGROUND: Phenotypic features associated with genes and diseases play an important role in disease-related studies and most of the available methods focus solely on the Online Mendelian Inheritance in Man (OMIM) database without considering the con...
HyDRA: gene prioritization via hybrid distance-score rank aggregation.
Bioinformatics (Oxford, England)
Nov 18, 2014
UNLABELLED: Gene prioritization refers to a family of computational techniques for inferring disease genes through a set of training genes and carefully chosen similarity criteria. Test genes are scored based on their average similarity to the traini...
Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data.
Nucleic acids research
Oct 27, 2014
The current version of the Human Disease Ontology (DO) (http://www.disease-ontology.org) database expands the utility of the ontology for the examination and comparison of genetic variation, phenotype, protein, drug and epitope data through the lens ...
DOSE: an R/Bioconductor package for disease ontology semantic and enrichment analysis.
Bioinformatics (Oxford, England)
Oct 17, 2014
SUMMARY: Disease ontology (DO) annotates human genes in the context of disease. DO is important annotation in translating molecular findings from high-throughput data to clinical relevance. DOSE is an R package providing semantic similarity computati...
Evaluating the state of the art in disorder recognition and normalization of the clinical narrative.
Journal of the American Medical Informatics Association : JAMIA
Aug 21, 2014
OBJECTIVE: The ShARe/CLEF eHealth 2013 Evaluation Lab Task 1 was organized to evaluate the state of the art on the clinical text in (i) disorder mention identification/recognition based on Unified Medical Language System (UMLS) definition (Task 1a) a...
ExposomeX: Development of an Integrative Exposomic Platform to Expedite Discovery of the "Exposure-Biology-Disease" Nexus.
Environmental science & technology
Jul 8, 2025
We proposed presenting a novel integrated platform, ExposomeX, that was created to expedite discovery of the "exposure-biology-disease" nexus. This platform has six major functions, i.e., exposome database (E-DB), biological link (E-BIO), statistical...
GDReCo: Fine-grained gene-disease relationship extraction corpus.
Computer methods and programs in biomedicine
Jun 1, 2025
BACKGROUND AND OBJECTIVE: Understanding gene-disease relationships is crucial for medical research, drug discovery, clinical diagnosis, and other fields. However, there is currently no high-quality, fine-grained corpus available for training Natural ...
Utilizing Dual-Channel Graph and Hypergraph Convolution Network to Discover Microbes Underlying Disease Traits.
Journal of chemical information and modeling
May 26, 2025
Discovering microbes underlying disease traits opens up opportunities for the diagnosis and effective treatment of diseases. However, traditional methods are often based on biological experiments, which are not only time-consuming but also costly, dr...
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