004 Datenverarbeitung; Informatik
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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.
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.
In this paper, we examine conditioning of the discretization of the Helmholtz problem. Although the discrete Helmholtz problem has been studied from different perspectives, to the best of our knowledge, there is no conditioning analysis for it. We aim to fill this gap in the literature. We propose a novel method in 1D to observe the near-zero eigenvalues of a symmetric indefinite matrix. Standard classification of ill-conditioning based on the matrix condition number is not true for the discrete Helmholtz problem. We relate the ill-conditioning of the discretization of the Helmholtz problem with the condition number of the matrix. We carry out analytical conditioning analysis in 1D and extend our observations to 2D with numerical observations. We examine several discretizations. We find different regions in which the condition number of the problem shows different characteristics. We also explain the general behavior of the solutions in these regions.
“Broadcast your gender.”
(2022)
Social media platforms provide a large array of behavioral data relevant to social scientific research. However, key information such as sociodemographic characteristics of agents are often missing. This paper aims to compare four methods of classifying social attributes from text. Specifically, we are interested in estimating the gender of German social media creators. By using the example of a random sample of 200 YouTube channels, we compare several classification methods, namely (1) a survey among university staff, (2) a name dictionary method with the World Gender Name Dictionary as a reference list, (3) an algorithmic approach using the website gender-api.com, and (4) a Multinomial Naïve Bayes (MNB) machine learning technique. These different methods identify gender attributes based on YouTube channel names and descriptions in German but are adaptable to other languages. Our contribution will evaluate the share of identifiable channels, accuracy and meaningfulness of classification, as well as limits and benefits of each approach. We aim to address methodological challenges connected to classifying gender attributes for YouTube channels as well as related to reinforcing stereotypes and ethical implications.
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.