BACKGROUND: Congenital Myotonic Dystrophy (CDM1) is a rare neuromuscular condition caused by a triplet repeat expansion in the DMPK gene. Despite there being a well-recognized clinical syndrome, there has not been an effort to use a standardized onto...
Methods in molecular biology (Clifton, N.J.)
Jan 1, 2019
Technological advancements in many fields have led to huge increases in data production, including data volume, diversity, and the speed at which new data is becoming available. In accordance with this, there is a lack of conformity in the ways data ...
Studies in health technology and informatics
Jan 1, 2019
The number of features that can be extracted from ECG signals has increased with the advancement in signal processing techniques. At the same time, there is an increase in research efforts to support efficient and effective analysis and interpretatio...
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...