Studies in health technology and informatics
Jan 1, 2019
This paper describes a method by which the Web Ontology Language (OWL) can be used to specify a highly structured health record, following internationally recognised standards such as ISO 13606 and HL7 CDA. The structured record is coded using scheme...
PURPOSE: There is as yet no computer-processable resource to describe treatment end points in cancer, hindering our ability to systematically capture and share outcomes data to inform better patient care. To address these unmet needs, we have built a...
The past decade has seen an explosion in the collection of genotype data in domains as diverse as medicine, ecology, livestock and plant breeding. Along with this comes the challenge of dealing with the related phenotype data, which is not only large...
Diagnosing rare diseases can be challenging for clinicians. This article gives an overview on novel approaches, which enable automated phenotype-driven analyses of differential diagnoses for rare diseases as well as genomic variation data of affected...
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
Jul 1, 2018
Primary Sjögren's Syndrome (pSS) has been characterized as a hypersensitivity reaction type II systemic autoimmune chronic disease causing exocrine gland dysfunction mainly affecting women near the menopausal age. pSS patients exhibit dryness of the ...
MOTIVATION: Modern problems of concept annotation associate an object of interest (gene, individual, text document) with a set of interrelated textual descriptors (functions, diseases, topics), often organized in concept hierarchies or ontologies. Mo...
MOTIVATION: Computational gene prioritization can aid in disease gene identification. Here, we propose pBRIT (prioritization using Bayesian Ridge regression and Information Theoretic model), a novel adaptive and scalable prioritization tool, integrat...
SUMMARY: Second use of clinical data commonly involves annotating biomedical text with terminologies and ontologies. The National Center for Biomedical Ontology Annotator is a frequently used annotation service, originally designed for biomedical dat...
MOTIVATION: The ever-increasing number of biomedical datasets provides tremendous opportunities for re-use but current data repositories provide limited means of exploration apart from text-based search. Ontological metadata annotations provide conte...
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