004 Datenverarbeitung; Informatik
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The integration of multiple data sources is a common problem in a large variety of applications. Traditionally, handcrafted similarity measures are used to discover, merge, and integrate multiple representations of the same entity-duplicates-into a large homogeneous collection of data. Often, these similarity measures do not cope well with the heterogeneity of the underlying dataset. In addition, domain experts are needed to manually design and configure such measures, which is both time-consuming and requires extensive domain expertise. <br /> We propose a deep Siamese neural network, capable of learning a similarity measure that is tailored to the characteristics of a particular dataset. With the properties of deep learning methods, we are able to eliminate the manual feature engineering process and thus considerably reduce the effort required for model construction. In addition, we show that it is possible to transfer knowledge acquired during the deduplication of one dataset to another, and thus significantly reduce the amount of data required to train a similarity measure. We evaluated our method on multiple datasets and compare our approach to state-of-the-art deduplication methods. Our approach outperforms competitors by up to +26 percent F-measure, depending on task and dataset. In addition, we show that knowledge transfer is not only feasible, but in our experiments led to an improvement in F-measure of up to +4.7 percent.
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.
Correction to: Knowledge bases and software support for variant interpretation in precision oncology
(2021)
Phe2vec
(2021)
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.
Data privacy is a very important issue. Especially in fields like medicine, it is paramount to abide by the existing privacy regulations to preserve patients' anonymity. However, data is required for research and training machine learning models that could help gain insight into complex correlations or personalised treatments that may otherwise stay undiscovered. Those models generally scale with the amount of data available, but the current situation often prohibits building large databases across sites. So it would be beneficial to be able to combine similar or related data from different sites all over the world while still preserving data privacy. Federated learning has been proposed as a solution for this, because it relies on the sharing of machine learning models, instead of the raw data itself. That means private data never leaves the site or device it was collected on. Federated learning is an emerging research area, and many domains have been identified for the application of those methods. This systematic literature review provides an extensive look at the concept of and research into federated learning and its applicability for confidential healthcare datasets.
First-class concepts
(2022)
Ideally, programs are partitioned into independently maintainable and understandable modules. As a system grows, its architecture gradually loses the capability to accommodate new concepts in a modular way. While refactoring is expensive and not always possible, and the programming language might lack dedicated primary language constructs to express certain cross-cutting concerns, programmers are still able to explain and delineate convoluted concepts through secondary means: code comments, use of whitespace and arrangement of code, documentation, or communicating tacit knowledge. <br /> Secondary constructs are easy to change and provide high flexibility in communicating cross-cutting concerns and other concepts among programmers. However, such secondary constructs usually have no reified representation that can be explored and manipulated as first-class entities through the programming environment. <br /> In this exploratory work, we discuss novel ways to express a wide range of concepts, including cross-cutting concerns, patterns, and lifecycle artifacts independently of the dominant decomposition imposed by an existing architecture. We propose the representation of concepts as first-class objects inside the programming environment that retain the capability to change as easily as code comments. We explore new tools that allow programmers to view, navigate, and change programs based on conceptual perspectives. In a small case study, we demonstrate how such views can be created and how the programming experience changes from draining programmers' attention by stretching it across multiple modules toward focusing it on cohesively presented concepts. Our designs are geared toward facilitating multiple secondary perspectives on a system to co-exist in symbiosis with the original architecture, hence making it easier to explore, understand, and explain complex contexts and narratives that are hard or impossible to express using primary modularity constructs.
Bidirectional order dependencies (bODs) capture order relationships between lists of attributes in a relational table. They can express that, for example, sorting books by publication date in ascending order also sorts them by age in descending order. The knowledge about order relationships is useful for many data management tasks, such as query optimization, data cleaning, or consistency checking. Because the bODs of a specific dataset are usually not explicitly given, they need to be discovered. The discovery of all minimal bODs (in set-based canonical form) is a task with exponential complexity in the number of attributes, though, which is why existing bOD discovery algorithms cannot process datasets of practically relevant size in a reasonable time. In this paper, we propose the distributed bOD discovery algorithm DISTOD, whose execution time scales with the available hardware. DISTOD is a scalable, robust, and elastic bOD discovery approach that combines efficient pruning techniques for bOD candidates in set-based canonical form with a novel, reactive, and distributed search strategy. Our evaluation on various datasets shows that DISTOD outperforms both single-threaded and distributed state-of-the-art bOD discovery algorithms by up to orders of magnitude; it can, in particular, process much larger datasets.
How inclusive are we?
(2022)
ACM SIGMOD, VLDB and other database organizations have committed to fostering an inclusive and diverse community, as do many other scientific organizations. Recently, different measures have been taken to advance these goals, especially for underrepresented groups. One possible measure is double-blind reviewing, which aims to hide gender, ethnicity, and other properties of the authors. <br /> We report the preliminary results of a gender diversity analysis of publications of the database community across several peer-reviewed venues, and also compare women's authorship percentages in both single-blind and double-blind venues along the years. We also obtained a cross comparison of the obtained results in data management with other relevant areas in Computer Science.
We consider the subset selection problem for function f with constraint bound B that changes over time. Within the area of submodular optimization, various greedy approaches are commonly used. For dynamic environments we observe that the adaptive variants of these greedy approaches are not able to maintain their approximation quality. Investigating the recently introduced POMC Pareto optimization approach, we show that this algorithm efficiently computes a phi=(alpha(f)/2)(1 - 1/e(alpha)f)-approximation, where alpha(f) is the submodularity ratio of f, for each possible constraint bound b <= B. Furthermore, we show that POMC is able to adapt its set of solutions quickly in the case that B increases. Our experimental investigations for the influence maximization in social networks show the advantage of POMC over generalized greedy algorithms. We also consider EAMC, a new evolutionary algorithm with polynomial expected time guarantee to maintain phi approximation ratio, and NSGA-II with two different population sizes as advanced multi-objective optimization algorithm, to demonstrate their challenges in optimizing the maximum coverage problem. Our empirical analysis shows that, within the same number of evaluations, POMC is able to perform as good as NSGA-II under linear constraint, while EAMC performs significantly worse than all considered algorithms in most cases.
Modern data analysis tasks often involve control flow statements, such as the iterations in PageRank and K-means. To achieve scalability, developers usually implement these tasks in distributed dataflow systems, such as Spark and Flink. Designers of such systems have to choose between providing imperative or functional control flow constructs to users. Imperative constructs are easier to use, but functional constructs are easier to compile to an efficient dataflow job. We propose Mitos, a system where control flow is both easy to use and efficient. Mitos relies on an intermediate representation based on the static single assignment form. This allows us to abstract away from specific control flow constructs and treat any imperative control flow uniformly both when building the dataflow job and when coordinating the distributed execution.