Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.

The interplay between process and decision models plays a crucial role in business process management, as decisions may be based on running processes and affect process outcomes. Often process models include decisions that are encoded through process control flow structures and data flow elements, thus reducing process model maintainability. The Decision Model and Notation (DMN) was proposed to achieve separation of concerns and to possibly complement the Business Process Model and Notation (BPMN) for designing decisions related to process models. Nevertheless, deriving decision models from process models remains challenging, especially when the same data underlie both process and decision models. In this paper, we explore how and to which extent the data modeled in BPMN processes and used for decision-making may be represented in the corresponding DMN decision models. To this end, we identify a set of patterns that capture possible representations of data in BPMN processes and that can be used to guide the derivation of decision models related to existing process models. Throughout the paper we refer to real-world healthcare processes to show the applicability of the proposed approach. (C) 2019 Elsevier Ltd. All rights reserved.

Successfully completing any data science project demands careful consideration across its whole process. Although the focus is often put on later phases of the process, in practice, experts spend more time in earlier phases, preparing data, to make them consistent with the systems' requirements or to improve their models' accuracies. Duplicate detection is typically applied during the data cleaning phase, which is dedicated to removing data inconsistencies and improving the overall quality and usability of data. While data cleaning involves a plethora of approaches to perform specific operations, such as schema alignment and data normalization, the task of detecting and removing duplicate records is particularly challenging. Duplicates arise when multiple records representing the same entities exist in a database. Due to numerous reasons, spanning from simple typographical errors to different schemas and formats of integrated databases. Keeping a database free of duplicates is crucial for most use-cases, as their existence causes false negatives and false positives when matching queries against it. These two data quality issues have negative implications for tasks, such as hotel booking, where users may erroneously select a wrong hotel, or parcel delivery, where a parcel can get delivered to the wrong address. Identifying the variety of possible data issues to eliminate duplicates demands sophisticated approaches. While research in duplicate detection is well-established and covers different aspects of both efficiency and effectiveness, our work in this thesis focuses on the latter. We propose novel approaches to improve data quality before duplicate detection takes place and apply the latter in datasets even when prior labeling is not available. Our experiments show that improving data quality upfront can increase duplicate classification results by up to 19%. To this end, we propose two novel pipelines that select and apply generic as well as address-specific data preparation steps with the purpose of maximizing the success of duplicate detection. Generic data preparation, such as the removal of special characters, can be applied to any relation with alphanumeric attributes. When applied, data preparation steps are selected only for attributes where there are positive effects on pair similarities, which indirectly affect classification, or on classification directly. Our work on addresses is twofold; first, we consider more domain-specific approaches to improve the quality of values, and, second, we experiment with known and modified versions of similarity measures to select the most appropriate per address attribute, e.g., city or country. To facilitate duplicate detection in applications where gold standard annotations are not available and obtaining them is not possible or too expensive, we propose MDedup. MDedup is a novel, rule-based, and fully automatic duplicate detection approach that is based on matching dependencies. These dependencies can be used to detect duplicates and can be discovered using state-of-the-art algorithms efficiently and without any prior labeling. MDedup uses two pipelines to first train on datasets with known labels, learning to identify useful matching dependencies, and then be applied on unseen datasets, regardless of any existing gold standard. Finally, our work is accompanied by open source code to enable repeatability of our research results and application of our approaches to other datasets.

Recent trends in ubiquitous computing have led to a proliferation of studies that focus on human activity recognition (HAR) utilizing inertial sensor data that consist of acceleration, orientation and angular velocity. However, the performances of such approaches are limited by the amount of annotated training data, especially in fields where annotating data is highly time-consuming and requires specialized professionals, such as in healthcare. In image classification, this limitation has been mitigated by powerful oversampling techniques such as data augmentation. Using this technique, this work evaluates to what extent transforming inertial sensor data into movement trajectories and into 2D heatmap images can be advantageous for HAR when data are scarce. A convolutional long short-term memory (ConvLSTM) network that incorporates spatiotemporal correlations was used to classify the heatmap images. Evaluation was carried out on Deep Inertial Poser (DIP), a known dataset composed of inertial sensor data. The results obtained suggest that for datasets with large numbers of subjects, using state-of-the-art methods remains the best alternative. However, a performance advantage was achieved for small datasets, which is usually the case in healthcare. Moreover, movement trajectories provide a visual representation of human activities, which can help researchers to better interpret and analyze motion patterns.

Gait analysis is an important tool for the early detection of neurological diseases and for the assessment of risk of falling in elderly people. The availability of low-cost camera hardware on the market today and recent advances in Machine Learning enable a wide range of clinical and health-related applications, such as patient monitoring or exercise recognition at home. In this study, we evaluated the motion tracking performance of the latest generation of the Microsoft Kinect camera, Azure Kinect, compared to its predecessor Kinect v2 in terms of treadmill walking using a gold standard Vicon multi-camera motion capturing system and the 39 marker Plug-in Gait model. Five young and healthy subjects walked on a treadmill at three different velocities while data were recorded simultaneously with all three camera systems. An easy-to-administer camera calibration method developed here was used to spatially align the 3D skeleton data from both Kinect cameras and the Vicon system. With this calibration, the spatial agreement of joint positions between the two Kinect cameras and the reference system was evaluated. In addition, we compared the accuracy of certain spatio-temporal gait parameters, i.e., step length, step time, step width, and stride time calculated from the Kinect data, with the gold standard system. Our results showed that the improved hardware and the motion tracking algorithm of the Azure Kinect camera led to a significantly higher accuracy of the spatial gait parameters than the predecessor Kinect v2, while no significant differences were found between the temporal parameters. Furthermore, we explain in detail how this experimental setup could be used to continuously monitor the progress during gait rehabilitation in older people.