Joanna Kosinska

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Whole-exome sequencing (WES) has led to an exponential increase in identification of causative variants in mitochondrial disorders (MD). We performed WES in 113 MD suspected patients from Polish paediatric reference centre, in whom routine testing failed to identify a molecular defect. WES was performed using TruSeqExome enrichment, followed by variant(More)
—This paper presents the concept of an Adaptive SOA Solution Stack (AS3). It is an extension of the S3 model, implemented via uniform application of the AS3 element pattern across different layers of the model. The pattern consists of components constituting an adaptation loop. The functionality of each component is specified in a generic way. Aspects of(More)
The paper proposes an architecture of a system automating the provi-sioning process of cloud computing infrastructures. Its structure and components are specified, based on an analysis of three types of requirements: infrastructure providers, service providers and end users. These considerations have led us to formulate a new infrastructural model, offered(More)
Epileptic encephalopathies (EE) include a range of severe epilepsies in which intractable seizures or severe sub-clinical epileptiform activity are accompanied by impairment of motor and cognitive functions. Mutations in several genes including ion channels and other genes whose function is not completely understood have been associated to some EE. In this(More)
TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine the frequency of truncating variants in TTN in patients with DCM, including familial DCM (FDCM), and to look for genotype-phenotype correlations. Clinical cardiovascular data, family histories and blood(More)
In humans mutations in the PLN gene, encoding phospholamban - a regulator of sarcoplasmic reticulum calcium ATPase (SERCA), cause cardiomyopathy with prevalence depending on the population. Our purpose was to identify PLN mutations in Polish cardiomyopathy patients. We studied 161 unrelated subjects referred for genetic testing for cardiomyopathies: 135(More)
In this article, 'A classification approach for DNA methylation profiling with bisulfite next-generation sequencing data' Cheng and Zhu proposed a classification procedure based on a mixture of bino-mial model to make binary calls for methylation status. Whereas we find this approach interesting and competitive to method described in Lister et al. (2011)(More)
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