TY - JOUR A1 - Ulrich, Jens-Uwe A1 - Lutfi, Ahmad A1 - Rutzen, Kilian A1 - Renard, Bernhard Y. T1 - ReadBouncer BT - precise and scalable adaptive sampling for nanopore sequencing JF - Bioinformatics N2 - Motivation: Nanopore sequencers allow targeted sequencing of interesting nucleotide sequences by rejecting other sequences from individual pores. This feature facilitates the enrichment of low-abundant sequences by depleting overrepresented ones in-silico. Existing tools for adaptive sampling either apply signal alignment, which cannot handle human-sized reference sequences, or apply read mapping in sequence space relying on fast graphical processing units (GPU) base callers for real-time read rejection. Using nanopore long-read mapping tools is also not optimal when mapping shorter reads as usually analyzed in adaptive sampling applications. Results: Here, we present a new approach for nanopore adaptive sampling that combines fast CPU and GPU base calling with read classification based on Interleaved Bloom Filters. ReadBouncer improves the potential enrichment of low abundance sequences by its high read classification sensitivity and specificity, outperforming existing tools in the field. It robustly removes even reads belonging to large reference sequences while running on commodity hardware without GPUs, making adaptive sampling accessible for in-field researchers. Readbouncer also provides a user-friendly interface and installer files for end-users without a bioinformatics background. Y1 - 2022 U6 - https://doi.org/10.1093/bioinformatics/btac223 SN - 1367-4803 SN - 1367-4811 VL - 38 IS - SUPPL 1 SP - 153 EP - 160 PB - Oxford Univ. Press CY - Oxford ER - TY - JOUR A1 - Wittig, Alice A1 - Miranda, Fabio Malcher A1 - Hölzer, Martin A1 - Altenburg, Tom A1 - Bartoszewicz, Jakub Maciej A1 - Beyvers, Sebastian A1 - Dieckmann, Marius Alfred A1 - Genske, Ulrich A1 - Giese, Sven Hans-Joachim A1 - Nowicka, Melania A1 - Richard, Hugues A1 - Schiebenhoefer, Henning A1 - Schmachtenberg, Anna-Juliane A1 - Sieben, Paul A1 - Tang, Ming A1 - Tembrockhaus, Julius A1 - Renard, Bernhard Y. A1 - Fuchs, Stephan T1 - CovRadar BT - continuously tracking and filtering SARS-CoV-2 mutations for genomic surveillance JF - Bioinformatics N2 - The ongoing pandemic caused by SARS-CoV-2 emphasizes the importance of genomic surveillance to understand the evolution of the virus, to monitor the viral population, and plan epidemiological responses. Detailed analysis, easy visualization and intuitive filtering of the latest viral sequences are powerful for this purpose. We present CovRadar, a tool for genomic surveillance of the SARS-CoV-2 Spike protein. CovRadar consists of an analytical pipeline and a web application that enable the analysis and visualization of hundreds of thousand sequences. First, CovRadar extracts the regions of interest using local alignment, then builds a multiple sequence alignment, infers variants and consensus and finally presents the results in an interactive app, making accessing and reporting simple, flexible and fast. Y1 - 2022 U6 - https://doi.org/10.1093/bioinformatics/btac411 SN - 1367-4803 SN - 1367-4811 VL - 38 IS - 17 SP - 4223 EP - 4225 PB - Oxford Univ. Press CY - Oxford ER - TY - JOUR A1 - Trautmann, Justin A1 - Zhou, Lin A1 - Brahms, Clemens Markus A1 - Tunca, Can A1 - Ersoy, Cem A1 - Granacher, Urs A1 - Arnrich, Bert T1 - TRIPOD BT - A treadmill walking dataset with IMU, pressure-distribution and photoelectric data for gait analysis JF - Data : open access ʻData in scienceʼ journal N2 - Inertial measurement units (IMUs) enable easy to operate and low-cost data recording for gait analysis. When combined with treadmill walking, a large number of steps can be collected in a controlled environment without the need of a dedicated gait analysis laboratory. In order to evaluate existing and novel IMU-based gait analysis algorithms for treadmill walking, a reference dataset that includes IMU data as well as reliable ground truth measurements for multiple participants and walking speeds is needed. This article provides a reference dataset consisting of 15 healthy young adults who walked on a treadmill at three different speeds. Data were acquired using seven IMUs placed on the lower body, two different reference systems (Zebris FDMT-HQ and OptoGait), and two RGB cameras. Additionally, in order to validate an existing IMU-based gait analysis algorithm using the dataset, an adaptable modular data analysis pipeline was built. Our results show agreement between the pressure-sensitive Zebris and the photoelectric OptoGait system (r = 0.99), demonstrating the quality of our reference data. As a use case, the performance of an algorithm originally designed for overground walking was tested on treadmill data using the data pipeline. The accuracy of stride length and stride time estimations was comparable to that reported in other studies with overground data, indicating that the algorithm is equally applicable to treadmill data. The Python source code of the data pipeline is publicly available, and the dataset will be provided by the authors upon request, enabling future evaluations of IMU gait analysis algorithms without the need of recording new data. KW - inertial measurement unit KW - gait analysis algorithm KW - OptoGait KW - Zebris KW - data pipeline KW - public dataset Y1 - 2021 U6 - https://doi.org/10.3390/data6090095 SN - 2306-5729 VL - 6 IS - 9 PB - MDPI CY - Basel ER - TY - BOOK A1 - Meinel, Christoph A1 - Döllner, Jürgen Roland Friedrich A1 - Weske, Mathias A1 - Polze, Andreas A1 - Hirschfeld, Robert A1 - Naumann, Felix A1 - Giese, Holger A1 - Baudisch, Patrick A1 - Friedrich, Tobias A1 - Böttinger, Erwin A1 - Lippert, Christoph A1 - Dörr, Christian A1 - Lehmann, Anja A1 - Renard, Bernhard A1 - Rabl, Tilmann A1 - Uebernickel, Falk A1 - Arnrich, Bert A1 - Hölzle, Katharina T1 - Proceedings of the HPI Research School on Service-oriented Systems Engineering 2020 Fall Retreat N2 - Design and Implementation of service-oriented architectures imposes a huge number of research questions from the fields of software engineering, system analysis and modeling, adaptability, and application integration. Component orientation and web services are two approaches for design and realization of complex web-based system. Both approaches allow for dynamic application adaptation as well as integration of enterprise application. Service-Oriented Systems Engineering represents a symbiosis of best practices in object-orientation, component-based development, distributed computing, and business process management. It provides integration of business and IT concerns. The annual Ph.D. Retreat of the Research School provides each member the opportunity to present his/her current state of their research and to give an outline of a prospective Ph.D. thesis. Due to the interdisciplinary structure of the research school, this technical report covers a wide range of topics. These include but are not limited to: Human Computer Interaction and Computer Vision as Service; Service-oriented Geovisualization Systems; Algorithm Engineering for Service-oriented Systems; Modeling and Verification of Self-adaptive Service-oriented Systems; Tools and Methods for Software Engineering in Service-oriented Systems; Security Engineering of Service-based IT Systems; Service-oriented Information Systems; Evolutionary Transition of Enterprise Applications to Service Orientation; Operating System Abstractions for Service-oriented Computing; and Services Specification, Composition, and Enactment. N2 - Der Entwurf und die Realisierung dienstbasierender Architekturen wirft eine Vielzahl von Forschungsfragestellungen aus den Gebieten der Softwaretechnik, der Systemmodellierung und -analyse, sowie der Adaptierbarkeit und Integration von Applikationen auf. Komponentenorientierung und WebServices sind zwei Ansätze für den effizienten Entwurf und die Realisierung komplexer Web-basierender Systeme. Sie ermöglichen die Reaktion auf wechselnde Anforderungen ebenso, wie die Integration großer komplexer Softwaresysteme. "Service-Oriented Systems Engineering" repräsentiert die Symbiose bewährter Praktiken aus den Gebieten der Objektorientierung, der Komponentenprogrammierung, des verteilten Rechnen sowie der Geschäftsprozesse und berücksichtigt auch die Integration von Geschäftsanliegen und Informationstechnologien. Die Klausurtagung des Forschungskollegs "Service-oriented Systems Engineering" findet einmal jährlich statt und bietet allen Kollegiaten die Möglichkeit den Stand ihrer aktuellen Forschung darzulegen. Bedingt durch die Querschnittstruktur des Kollegs deckt dieser Bericht ein weites Spektrum aktueller Forschungsthemen ab. Dazu zählen unter anderem Human Computer Interaction and Computer Vision as Service; Service-oriented Geovisualization Systems; Algorithm Engineering for Service-oriented Systems; Modeling and Verification of Self-adaptive Service-oriented Systems; Tools and Methods for Software Engineering in Service-oriented Systems; Security Engineering of Service-based IT Systems; Service-oriented Information Systems; Evolutionary Transition of Enterprise Applications to Service Orientation; Operating System Abstractions for Service-oriented Computing; sowie Services Specification, Composition, and Enactment. T3 - Technische Berichte des Hasso-Plattner-Instituts für Digital Engineering an der Universität Potsdam - 138 KW - Hasso Plattner Institute KW - research school KW - Ph.D. retreat KW - service-oriented systems engineering KW - Hasso-Plattner-Institut KW - Forschungskolleg KW - Klausurtagung KW - Service-oriented Systems Engineering Y1 - 2021 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-504132 SN - 978-3-86956-513-2 SN - 1613-5652 SN - 2191-1665 IS - 138 PB - Universitätsverlag Potsdam CY - Potsdam ER - TY - JOUR A1 - De Freitas, Jessica K. A1 - Johnson, Kipp W. A1 - Golden, Eddye A1 - Nadkarni, Girish N. A1 - Dudley, Joel T. A1 - Böttinger, Erwin A1 - Glicksberg, Benjamin S. A1 - Miotto, Riccardo T1 - Phe2vec BT - Automated disease phenotyping based on unsupervised embeddings from electronic health records JF - Patterns N2 - Robust phenotyping of patients from electronic health records (EHRs) at scale is a challenge in clinical informatics. Here, we introduce Phe2vec, an automated framework for disease phenotyping from EHRs based on unsupervised learning and assess its effectiveness against standard rule-based algorithms from Phenotype KnowledgeBase (PheKB). Phe2vec is based on pre-computing embeddings of medical concepts and patients' clinical history. Disease phenotypes are then derived from a seed concept and its neighbors in the embedding space. Patients are linked to a disease if their embedded representation is close to the disease phenotype. Comparing Phe2vec and PheKB cohorts head-to-head using chart review, Phe2vec performed on par or better in nine out of ten diseases. Differently from other approaches, it can scale to any condition and was validated against widely adopted expert-based standards. Phe2vec aims to optimize clinical informatics research by augmenting current frameworks to characterize patients by condition and derive reliable disease cohorts. Y1 - 2021 U6 - https://doi.org/10.1016/j.patter.2021.100337 SN - 2666-3899 VL - 2 IS - 9 PB - Elsevier CY - Amsterdam ER - TY - GEN A1 - Konigorski, Stefan A1 - Wernicke, Sarah A1 - Slosarek, Tamara A1 - Zenner, Alexander Maximilian A1 - Strelow, Nils A1 - Ruether, Darius Ferenc A1 - Henschel, Florian A1 - Manaswini, Manisha A1 - Pottbäcker, Fabian A1 - Edelman, Jonathan Antonio A1 - Owoyele, Babajide A1 - Danieletto, Matteo A1 - Golden, Eddye A1 - Zweig, Micol A1 - Nadkarni, Girish N. A1 - Böttinger, Erwin T1 - StudyU: A Platform for Designing and Conducting Innovative Digital N-of-1 Trials T2 - Zweitveröffentlichungen der Universität Potsdam : Reihe der Digital Engineering Fakultät N2 - N-of-1 trials are the gold standard study design to evaluate individual treatment effects and derive personalized treatment strategies. Digital tools have the potential to initiate a new era of N-of-1 trials in terms of scale and scope, but fully functional platforms are not yet available. Here, we present the open source StudyU platform, which includes the StudyU Designer and StudyU app. With the StudyU Designer, scientists are given a collaborative web application to digitally specify, publish, and conduct N-of-1 trials. The StudyU app is a smartphone app with innovative user-centric elements for participants to partake in trials published through the StudyU Designer to assess the effects of different interventions on their health. Thereby, the StudyU platform allows clinicians and researchers worldwide to easily design and conduct digital N-of-1 trials in a safe manner. We envision that StudyU can change the landscape of personalized treatments both for patients and healthy individuals, democratize and personalize evidence generation for self-optimization and medicine, and can be integrated in clinical practice. T3 - Zweitveröffentlichungen der Universität Potsdam : Reihe der Digital Engineering Fakultät - 12 KW - digital interventions KW - N-of-1 trial KW - SCED KW - single-case experimental design KW - web application KW - mobile application KW - app KW - digital health Y1 - 2023 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-580370 IS - 12 ER - TY - JOUR A1 - Freitas da Cruz, Harry A1 - Pfahringer, Boris A1 - Martensen, Tom A1 - Schneider, Frederic A1 - Meyer, Alexander A1 - Böttinger, Erwin A1 - Schapranow, Matthieu-Patrick T1 - Using interpretability approaches to update "black-box" clinical prediction models BT - an external validation study in nephrology JF - Artificial intelligence in medicine : AIM N2 - Despite advances in machine learning-based clinical prediction models, only few of such models are actually deployed in clinical contexts. Among other reasons, this is due to a lack of validation studies. In this paper, we present and discuss the validation results of a machine learning model for the prediction of acute kidney injury in cardiac surgery patients initially developed on the MIMIC-III dataset when applied to an external cohort of an American research hospital. To help account for the performance differences observed, we utilized interpretability methods based on feature importance, which allowed experts to scrutinize model behavior both at the global and local level, making it possible to gain further insights into why it did not behave as expected on the validation cohort. The knowledge gleaned upon derivation can be potentially useful to assist model update during validation for more generalizable and simpler models. We argue that interpretability methods should be considered by practitioners as a further tool to help explain performance differences and inform model update in validation studies. KW - Clinical predictive modeling KW - Nephrology KW - Validation KW - Interpretability KW - methods Y1 - 2021 U6 - https://doi.org/10.1016/j.artmed.2020.101982 SN - 0933-3657 SN - 1873-2860 VL - 111 PB - Elsevier CY - Amsterdam ER - TY - BOOK A1 - Adriano, Christian A1 - Bleifuß, Tobias A1 - Cheng, Lung-Pan A1 - Diba, Kiarash A1 - Fricke, Andreas A1 - Grapentin, Andreas A1 - Jiang, Lan A1 - Kovacs, Robert A1 - Krejca, Martin Stefan A1 - Mandal, Sankalita A1 - Marwecki, Sebastian A1 - Matthies, Christoph A1 - Mattis, Toni A1 - Niephaus, Fabio A1 - Pirl, Lukas A1 - Quinzan, Francesco A1 - Ramson, Stefan A1 - Rezaei, Mina A1 - Risch, Julian A1 - Rothenberger, Ralf A1 - Roumen, Thijs A1 - Stojanovic, Vladeta A1 - Wolf, Johannes ED - Meinel, Christoph ED - Plattner, Hasso ED - Döllner, Jürgen Roland Friedrich ED - Weske, Mathias ED - Polze, Andreas ED - Hirschfeld, Robert ED - Naumann, Felix ED - Giese, Holger ED - Baudisch, Patrick ED - Friedrich, Tobias ED - Böttinger, Erwin ED - Lippert, Christoph T1 - Technical report BT - Fall Retreat 2018 N2 - Design and Implementation of service-oriented architectures imposes a huge number of research questions from the fields of software engineering, system analysis and modeling, adaptability, and application integration. Component orientation and web services are two approaches for design and realization of complex web-based system. Both approaches allow for dynamic application adaptation as well as integration of enterprise application. Commonly used technologies, such as J2EE and .NET, form de facto standards for the realization of complex distributed systems. Evolution of component systems has lead to web services and service-based architectures. This has been manifested in a multitude of industry standards and initiatives such as XML, WSDL UDDI, SOAP, etc. All these achievements lead to a new and promising paradigm in IT systems engineering which proposes to design complex software solutions as collaboration of contractually defined software services. Service-Oriented Systems Engineering represents a symbiosis of best practices in object-orientation, component-based development, distributed computing, and business process management. It provides integration of business and IT concerns. The annual Ph.D. Retreat of the Research School provides each member the opportunity to present his/her current state of their research and to give an outline of a prospective Ph.D. thesis. Due to the interdisciplinary structure of the research school, this technical report covers a wide range of topics. These include but are not limited to: Human Computer Interaction and Computer Vision as Service; Service-oriented Geovisualization Systems; Algorithm Engineering for Service-oriented Systems; Modeling and Verification of Self-adaptive Service-oriented Systems; Tools and Methods for Software Engineering in Service-oriented Systems; Security Engineering of Service-based IT Systems; Service-oriented Information Systems; Evolutionary Transition of Enterprise Applications to Service Orientation; Operating System Abstractions for Service-oriented Computing; and Services Specification, Composition, and Enactment. N2 - Der Entwurf und die Realisierung dienstbasierender Architekturen wirft eine Vielzahl von Forschungsfragestellungen aus den Gebieten der Softwaretechnik, der Systemmodellierung und -analyse, sowie der Adaptierbarkeit und Integration von Applikationen auf. Komponentenorientierung und WebServices sind zwei Ansätze für den effizienten Entwurf und die Realisierung komplexer Web-basierender Systeme. Sie ermöglichen die Reaktion auf wechselnde Anforderungen ebenso, wie die Integration großer komplexer Softwaresysteme. Heute übliche Technologien, wie J2EE und .NET, sind de facto Standards für die Entwicklung großer verteilter Systeme. Die Evolution solcher Komponentensysteme führt über WebServices zu dienstbasierenden Architekturen. Dies manifestiert sich in einer Vielzahl von Industriestandards und Initiativen wie XML, WSDL, UDDI, SOAP. All diese Schritte führen letztlich zu einem neuen, vielversprechenden Paradigma für IT Systeme, nach dem komplexe Softwarelösungen durch die Integration vertraglich vereinbarter Software-Dienste aufgebaut werden sollen. "Service-Oriented Systems Engineering" repräsentiert die Symbiose bewährter Praktiken aus den Gebieten der Objektorientierung, der Komponentenprogrammierung, des verteilten Rechnen sowie der Geschäftsprozesse und berücksichtigt auch die Integration von Geschäftsanliegen und Informationstechnologien. Die Klausurtagung des Forschungskollegs "Service-oriented Systems Engineering" findet einmal jährlich statt und bietet allen Kollegiaten die Möglichkeit den Stand ihrer aktuellen Forschung darzulegen. Bedingt durch die Querschnittstruktur des Kollegs deckt dieser Bericht ein weites Spektrum aktueller Forschungsthemen ab. Dazu zählen unter anderem Human Computer Interaction and Computer Vision as Service; Service-oriented Geovisualization Systems; Algorithm Engineering for Service-oriented Systems; Modeling and Verification of Self-adaptive Service-oriented Systems; Tools and Methods for Software Engineering in Service-oriented Systems; Security Engineering of Service-based IT Systems; Service-oriented Information Systems; Evolutionary Transition of Enterprise Applications to Service Orientation; Operating System Abstractions for Service-oriented Computing; sowie Services Specification, Composition, and Enactment. T3 - Technische Berichte des Hasso-Plattner-Instituts für Digital Engineering an der Universität Potsdam - 129 KW - Hasso Plattner Institute KW - research school KW - Ph.D. retreat KW - service-oriented systems engineering KW - Hasso-Plattner-Institut KW - Forschungskolleg KW - Klausurtagung KW - Service-oriented Systems Engineering Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-427535 SN - 978-3-86956-465-4 SN - 1613-5652 SN - 2191-1665 IS - 129 PB - Universitätsverlag Potsdam CY - Potsdam ER - TY - JOUR A1 - Borchert, Florian A1 - Mock, Andreas A1 - Tomczak, Aurelie A1 - Hügel, Jonas A1 - Alkarkoukly, Samer A1 - Knurr, Alexander A1 - Volckmar, Anna-Lena A1 - Stenzinger, Albrecht A1 - Schirmacher, Peter A1 - Debus, Jürgen A1 - Jäger, Dirk A1 - Longerich, Thomas A1 - Fröhling, Stefan A1 - Eils, Roland A1 - Bougatf, Nina A1 - Sax, Ulrich A1 - Schapranow, Matthieu-Patrick T1 - Knowledge bases and software support for variant interpretation in precision oncology JF - Briefings in bioinformatics N2 - Precision oncology is a rapidly evolving interdisciplinary medical specialty. Comprehensive cancer panels are becoming increasingly available at pathology departments worldwide, creating the urgent need for scalable cancer variant annotation and molecularly informed treatment recommendations. A wealth of mainly academia-driven knowledge bases calls for software tools supporting the multi-step diagnostic process. We derive a comprehensive list of knowledge bases relevant for variant interpretation by a review of existing literature followed by a survey among medical experts from university hospitals in Germany. In addition, we review cancer variant interpretation tools, which integrate multiple knowledge bases. We categorize the knowledge bases along the diagnostic process in precision oncology and analyze programmatic access options as well as the integration of knowledge bases into software tools. The most commonly used knowledge bases provide good programmatic access options and have been integrated into a range of software tools. For the wider set of knowledge bases, access options vary across different parts of the diagnostic process. Programmatic access is limited for information regarding clinical classifications of variants and for therapy recommendations. The main issue for databases used for biological classification of pathogenic variants and pathway context information is the lack of standardized interfaces. There is no single cancer variant interpretation tool that integrates all identified knowledge bases. Specialized tools are available and need to be further developed for different steps in the diagnostic process. KW - HiGHmed KW - personalized medicine KW - molecular tumor board KW - data integration KW - cancer therapy Y1 - 2021 U6 - https://doi.org/10.1093/bib/bbab134 SN - 1467-5463 SN - 1477-4054 VL - 22 IS - 6 PB - Oxford Univ. Press CY - Oxford ER - TY - JOUR A1 - XinYing, Chew A1 - Tiberius, Victor A1 - Alnoor, Alhamzah A1 - Camilleri, Mark A1 - Khaw, Khai Wah T1 - The dark side of metaverse: a multi-perspective of deviant behaviors from PLS-SEM and fsQCA findings JF - International journal of human–computer interaction N2 - The metaverse has created a huge buzz of interest because such a phenomenon is emerging. The behavioral aspect of the metaverse includes user engagement and deviant behaviors in the metaverse. Such technology has brought various dangers to individuals and society. There are growing cases reported of sexual abuse, racism, harassment, hate speech, and bullying because of online disinhibition make us feel more relaxed. This study responded to the literature call by investigating the effect of technical and social features through mediating roles of security and privacy on deviant behaviors in the metaverse. The data collected from virtual network users reached 1121 respondents. Partial Least Squares based structural equation modeling (PLS-SEM) and fuzzy set Qualitative Comparative Analysis (fsQCA) were used. PLS-SEM results revealed that social features such as user-to-user interaction, homophily, social ties, and social identity, and technical design such as immersive experience and invisibility significantly affect users’ deviant behavior in the metaverse. The fsQCA results provided insights into the multiple causal solutions and configurations. This study is exceptional because it provided decisive results by understanding the deviant behavior of users based on the symmetrical and asymmetrical approach to virtual networks. KW - deviant behaviors KW - metaverse KW - sociotechnical KW - perspective KW - privacy KW - fsQCA Y1 - 2024 U6 - https://doi.org/10.1080/10447318.2024.2331875 SN - 1044-7318 SN - 1532-7590 PB - Taylor & Francis CY - London ER -