004 Datenverarbeitung; Informatik
Refine
Has Fulltext
- no (19) (remove)
Document Type
- Article (15)
- Doctoral Thesis (2)
- Part of a Book (1)
- Other (1)
Is part of the Bibliography
- yes (19)
Keywords
- Activity-oriented Optimization (1)
- Algebraic methods (1)
- BPMN (1)
- Big Five model (1)
- Business Process Management (1)
- Business process modeling (1)
- Clinical predictive modeling (1)
- Clusteranalyse (1)
- Conceptual modeling (1)
- Data modeling (1)
Institute
- Hasso-Plattner-Institut für Digital Engineering GmbH (19) (remove)
Invention
(2023)
This entry addresses invention from five different perspectives: (i) definition of the term, (ii) mechanisms underlying invention processes, (iii) (pre-)history of human inventions, (iv) intellectual property protection vs open innovation, and (v) case studies of great inventors. Regarding the definition, an invention is the outcome of a creative process taking place within a technological milieu, which is recognized as successful in terms of its effectiveness as an original technology. In the process of invention, a technological possibility becomes realized. Inventions are distinct from either discovery or innovation. In human creative processes, seven mechanisms of invention can be observed, yielding characteristic outcomes: (1) basic inventions, (2) invention branches, (3) invention combinations, (4) invention toolkits, (5) invention exaptations, (6) invention values, and (7) game-changing inventions. The development of humanity has been strongly shaped by inventions ever since early stone tools and the conception of agriculture. An “explosion of creativity” has been associated with Homo sapiens, and inventions in all fields of human endeavor have followed suit, engendering an exponential growth of cumulative culture. This culture development emerges essentially through a reuse of previous inventions, their revision, amendment and rededication. In sociocultural terms, humans have increasingly regulated processes of invention and invention-reuse through concepts such as intellectual property, patents, open innovation and licensing methods. Finally, three case studies of great inventors are considered: Edison, Marconi, and Montessori, next to a discussion of human invention processes as collaborative endeavors.
Here we present an exome-wide rare genetic variant association study for 30 blood biomarkers in 191,971 individuals in the UK Biobank. We compare gene- based association tests for separate functional variant categories to increase interpretability and identify 193 significant gene-biomarker associations. Genes associated with biomarkers were ~ 4.5-fold enriched for conferring Mendelian disorders. In addition to performing weighted gene-based variant collapsing tests, we design and apply variant-category-specific kernel-based tests that integrate quantitative functional variant effect predictions for mis- sense variants, splicing and the binding of RNA-binding proteins. For these tests, we present a computationally efficient combination of the likelihood- ratio and score tests that found 36% more associations than the score test alone while also controlling the type-1 error. Kernel-based tests identified 13% more associations than their gene-based collapsing counterparts and had advantages in the presence of gain of function missense variants. We introduce local collapsing by amino acid position for missense variants and use it to interpret associations and identify potential novel gain of function variants in PIEZO1. Our results show the benefits of investigating different functional mechanisms when performing rare-variant association tests, and demonstrate pervasive rare-variant contribution to biomarker variability.
ReadBouncer
(2022)
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.
Based on the performance requirements of modern spatio-temporal data mining applications, in-memory database systems are often used to store and process the data. To efficiently utilize the scarce DRAM capacities, modern database systems support various tuning possibilities to reduce the memory footprint (e.g., data compression) or increase performance (e.g., additional indexes). However, the selection of cost and performance balancing configurations is challenging due to the vast number of possible setups consisting of mutually dependent individual decisions. In this paper, we introduce a novel approach to jointly optimize the compression, sorting, indexing, and tiering configuration for spatio-temporal workloads. Further, we consider horizontal data partitioning, which enables the independent application of different tuning options on a fine-grained level. We propose different linear programming (LP) models addressing cost dependencies at different levels of accuracy to compute optimized tuning configurations for a given workload and memory budgets. To yield maintainable and robust configurations, we extend our LP-based approach to incorporate reconfiguration costs as well as a worst-case optimization for potential workload scenarios. Further, we demonstrate on a real-world dataset that our models allow to significantly reduce the memory footprint with equal performance or increase the performance with equal memory size compared to existing tuning heuristics.
As resources are valuable assets, organizations have to decide which resources to allocate to business process tasks in a way that the process is executed not only effectively but also efficiently. Traditional role-based resource allocation leads to effective process executions, since each task is performed by a resource that has the required skills and competencies to do so. However, the resulting allocations are typically not as efficient as they could be, since optimization techniques have yet to find their way in traditional business process management scenarios. On the other hand, operations research provides a rich set of analytical methods for supporting problem-specific decisions on resource allocation. This paper provides a novel framework for creating transparency on existing tasks and resources, supporting individualized allocations for each activity in a process, and the possibility to integrate problem-specific analytical methods of the operations research domain. To validate the framework, the paper reports on the design and prototypical implementation of a software architecture, which extends a traditional process engine with a dedicated resource management component. This component allows us to define specific resource allocation problems at design time, and it also facilitates optimized resource allocation at run time. The framework is evaluated using a real-world parcel delivery process. The evaluation shows that the quality of the allocation results increase significantly with a technique from operations research in contrast to the traditional applied rule-based approach.
CovRadar
(2022)
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.
The transversal hypergraph problem asks to enumerate the minimal hitting sets of a hypergraph. If the solutions have bounded size, Eiter and Gottlob [SICOMP'95] gave an algorithm running in output-polynomial time, but whose space requirement also scales with the output. We improve this to polynomial delay and space. Central to our approach is the extension problem, deciding for a set X of vertices whether it is contained in any minimal hitting set. We show that this is one of the first natural problems to be W[3]-complete. We give an algorithm for the extension problem running in time O(m(vertical bar X vertical bar+1) n) and prove a SETH-lower bound showing that this is close to optimal. We apply our enumeration method to the discovery problem of minimal unique column combinations from data profiling. Our empirical evaluation suggests that the algorithm outperforms its worst-case guarantees on hypergraphs stemming from real-world databases.
Which event happened first?
(2021)
First come, first served: Critical choices between alternative actions are often made based on events external to an organization, and reacting promptly to their occurrence can be a major advantage over the competition. In Business Process Management (BPM), such deferred choices can be expressed in process models, and they are an important aspect of process engines. Blockchain-based process execution approaches are no exception to this, but are severely limited by the inherent properties of the platform: The isolated environment prevents direct access to external entities and data, and the non-continual runtime based entirely on atomic transactions impedes the monitoring and detection of events. In this paper we provide an in-depth examination of the semantics of deferred choice, and transfer them to environments such as the blockchain. We introduce and compare several oracle architectures able to satisfy certain requirements, and show that they can be implemented using state-of-the-art blockchain technology.
Comprior
(2021)
Background
Reproducible benchmarking is important for assessing the effectiveness of novel feature selection approaches applied on gene expression data, especially for prior knowledge approaches that incorporate biological information from online knowledge bases. However, no full-fledged benchmarking system exists that is extensible, provides built-in feature selection approaches, and a comprehensive result assessment encompassing classification performance, robustness, and biological relevance. Moreover, the particular needs of prior knowledge feature selection approaches, i.e. uniform access to knowledge bases, are not addressed. As a consequence, prior knowledge approaches are not evaluated amongst each other, leaving open questions regarding their effectiveness.
Results
We present the Comprior benchmark tool, which facilitates the rapid development and effortless benchmarking of feature selection approaches, with a special focus on prior knowledge approaches. Comprior is extensible by custom approaches, offers built-in standard feature selection approaches, enables uniform access to multiple knowledge bases, and provides a customizable evaluation infrastructure to compare multiple feature selection approaches regarding their classification performance, robustness, runtime, and biological relevance.
Conclusion
Comprior allows reproducible benchmarking especially of prior knowledge approaches, which facilitates their applicability and for the first time enables a comprehensive assessment of their effectiveness
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.