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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)
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)
OBJECTIVES To elaborate main system characteristics and relevant deployment experiences for the health information system (HIS) Orbis/OpenMed, which is in widespread use in Germany, Austria, and Switzerland. METHODS In a deployment phase of 3 years in a 1.200 bed university hospital, where the system underwent significant improvements, the system's(More)
There is an increasing interest in changing information systems to support business processes in a more direct way. Workflow technology is a very interesting candidate to achieve this goal. Hence the important question arises, how far do we get using this technology. Is its functionality powerful enough to support a wide range of applications or is it only(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)
The m.8344A>G mutation in the MTTK gene, which encodes the mitochondrial transfer RNA for lysine, is traditionally associated with myoclonic epilepsy and ragged-red fibres (MERRF), a multisystemic mitochondrial disease that is characterised by myoclonus, seizures, cerebellar ataxia, and mitochondrial myopathy with ragged-red fibres. We studied the clinical(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 Hospital information systems are evolving towards health information systems. This article aims at identifying both proven benefits and critical issues, and at discussing problems and possible solutions. METHODS Reports on HIS successes and failures were analyzed, and core challenges were identified. These challenges are discussed against state(More)