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BACKGROUND Next generation sequencing has become the core technology for gene discovery in rare inherited disorders. However, the interpretation of the numerous sequence variants identified remains challenging. We assessed the application of exome sequencing for diagnostics in complex I deficiency, a disease with vast genetic heterogeneity. METHODS Ten(More)
OBJECTIVES To present a summary of the state of the art in Health Information Systems (HIS), as discussed during the Heidelberg HIS Working Group Conference, and to examine possible strategies for continuous improvement of the field. METHODS The state of the art in HIS is briefly described, and the historical trends are examined that emerge from a review(More)
We report the development of an international registry for Neurodegeneration with Brain Iron Accumulation (NBIA), in the context of TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration), an EU-FP7 - funded project. This registry aims to combine scattered resources, integrate clinical and scientific knowledge, and generate a rich source for future(More)
With the advent of technologies that allow simultaneous genotyping of thousands of single-nucleotide polymorphisms (SNPs) across the genome, the genetic contributions to complex diseases can be explored at an unprecedented detail. This study is among the first to apply the genome-wide association study (GWAS) approach to Alzheimer disease (AD). We present(More)
OBJECTIVES To address the problem of alignment of health information systems to healthcare processes, which is a major challenge in healthcare organizations; to present a layered approach for system evolution and adaptation based on an application framework and rapid application development; to accomplish a demand-driven system evolution by embedding the(More)
To deliver patient-specific advice at the time and place of a consultation is an important contribution to improving clinician performance. Using computer-based decision support on the basis of clinical pathways is a promising strategy to achieve this goal. Thereby integration of IT applications into the clinical workflow is a core precondition for success.(More)
A seamless support of information flow for increasingly distributed healthcare processes requires to integrate heterogeneous IT systems into a comprehensive distributed information system. Different standards contribute to ease this integration. In a research project focussing on the development of a reference architecture for inter-institutional health(More)