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...
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...
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...
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 ...
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...
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...
MOTIVATION: Identifying effective therapeutic targets poses a challenge in drug discovery, especially for uncharacterized diseases without known therapeutic targets (e.g. rare diseases, intractable diseases).
MOTIVATION: The drug-disease, gene-disease, and drug-gene relationships, as high-frequency edge types, describe complex biological processes within the biomedical knowledge graph. The structural patterns formed by these three edges are the graph moti...
BACKGROUND: Disease Ontology (DO) has been widely studied in biomedical research and clinical practice to describe the roles of genes. DO enrichment analysis is an effective means to discover associations between genes and diseases. Compared to hundr...
Journal of the American Medical Informatics Association : JAMIA
Jun 20, 2024
OBJECTIVE: Natural language processing (NLP) algorithms are increasingly being applied to obtain unsupervised representations of electronic health record (EHR) data, but their comparative performance at predicting clinical endpoints remains unclear. ...