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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.
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.
Student teachers often struggle to keep track of everything that is happening in the classroom, and particularly to notice and respond when students cause disruptions. The complexity of the classroom environment is a potential contributing factor that has not been empirically tested. In this experimental study, we utilized a virtual reality (VR) classroom to examine whether classroom complexity affects the likelihood of student teachers noticing disruptions and how they react after noticing. Classroom complexity was operationalized as the number of disruptions and the existence of overlapping disruptions (multidimensionality) as well as the existence of parallel teaching tasks (simultaneity). Results showed that student teachers (n = 50) were less likely to notice the scripted disruptions, and also less likely to respond to the disruptions in a comprehensive and effortful manner when facing greater complexity. These results may have implications for both teacher training and the design of VR for training or research purpose. This study contributes to the field from two aspects: 1) it revealed how features of the classroom environment can affect student teachers' noticing of and reaction to disruptions; and 2) it extends the functionality of the VR environment-from a teacher training tool to a testbed of fundamental classroom processes that are difficult to manipulate in real-life.
We present a general approach to planning with incomplete information in Answer Set Programming (ASP). More precisely, we consider the problems of conformant and conditional planning with sensing actions and assumptions. We represent planning problems using a simple formalism where logic programs describe the transition function between states, the initial states and the goal states. For solving planning problems, we use Quantified Answer Set Programming (QASP), an extension of ASP with existential and universal quantifiers over atoms that is analogous to Quantified Boolean Formulas (QBFs). We define the language of quantified logic programs and use it to represent the solutions different variants of conformant and conditional planning. On the practical side, we present a translation-based QASP solver that converts quantified logic programs into QBFs and then executes a QBF solver, and we evaluate experimentally the approach on conformant and conditional planning benchmarks.
Business processes are often specified in descriptive or normative models. Both types of models should adhere to internal and external regulations, such as company guidelines or laws. Employing compliance checking techniques, it is possible to verify process models against rules. While traditionally compliance checking focuses on well-structured processes, we address case management scenarios. In case management, knowledge workers drive multi-variant and adaptive processes. Our contribution is based on the fragment-based case management approach, which splits a process into a set of fragments. The fragments are synchronized through shared data but can, otherwise, be dynamically instantiated and executed. We formalize case models using Petri nets. We demonstrate the formalization for design-time and run-time compliance checking and present a proof-of-concept implementation. The application of the implemented compliance checking approach to a use case exemplifies its effectiveness while designing a case model. The empirical evaluation on a set of case models for measuring the performance of the approach shows that rules can often be checked in less than a second.
I can see it in your eyes
(2021)
Over the past years, extensive research has been dedicated to developing robust platforms and data-driven dialog models to support long-term human-robot interactions. However, little is known about how people's perception of robots and engagement with them develop over time and how these can be accurately assessed through implicit and continuous measurement techniques. In this paper, we explore this by involving participants in three interaction sessions with multiple days of zero exposure in between. Each session consists of a joint task with a robot as well as two short social chats with it before and after the task. We measure participants' gaze patterns with a wearable eye-tracker and gauge their perception of the robot and engagement with it and the joint task using questionnaires. Results disclose that aversion of gaze in a social chat is an indicator of a robot's uncanniness and that the more people gaze at the robot in a joint task, the worse they perform. In contrast with most HRI literature, our results show that gaze toward an object of shared attention, rather than gaze toward a robotic partner, is the most meaningful predictor of engagement in a joint task. Furthermore, the analyses of gaze patterns in repeated interactions disclose that people's mutual gaze in a social chat develops congruently with their perceptions of the robot over time. These are key findings for the HRI community as they entail that gaze behavior can be used as an implicit measure of people's perception of robots in a social chat and of their engagement and task performance in a joint task.
A simplified run time analysis of the univariate marginal distribution algorithm on LeadingOnes
(2021)
With elementary means, we prove a stronger run time guarantee for the univariate marginal distribution algorithm (UMDA) optimizing the LEADINGONES benchmark function in the desirable regime with low genetic drift. If the population size is at least quasilinear, then, with high probability, the UMDA samples the optimum in a number of iterations that is linear in the problem size divided by the logarithm of the UMDA's selection rate. This improves over the previous guarantee, obtained by Dang and Lehre (2015) via the deep level-based population method, both in terms of the run time and by demonstrating further run time gains from small selection rates. Under similar assumptions, we prove a lower bound that matches our upper bound up to constant factors.
Effective query optimization is a core feature of any database management system. While most query optimization techniques make use of simple metadata, such as cardinalities and other basic statistics, other optimization techniques are based on more advanced metadata including data dependencies, such as functional, uniqueness, order, or inclusion dependencies. This survey provides an overview, intuitive descriptions, and classifications of query optimization and execution strategies that are enabled by data dependencies. We consider the most popular types of data dependencies and focus on optimization strategies that target the optimization of relational database queries. The survey supports database vendors to identify optimization opportunities as well as DBMS researchers to find related work and open research questions.
Recently, initial conflicts were introduced in the framework of M-adhesive categories as an important optimization of critical pairs. In particular, they represent a proper subset such that each conflict is represented in a minimal context by a unique initial one. The theory of critical pairs has been extended in the framework of M-adhesive categories to rules with nested application conditions (ACs), restricting the applicability of a rule and generalizing the well-known negative application conditions. A notion of initial conflicts for rules with ACs does not exist yet.
In this paper, on the one hand, we extend the theory of initial conflicts in the framework of M-adhesive categories to transformation rules with ACs. They represent a proper subset again of critical pairs for rules with ACs, and represent each conflict in a minimal context uniquely. They are moreover symbolic because we can show that in general no finite and complete set of conflicts for rules with ACs exists. On the other hand, we show that critical pairs are minimally M-complete, whereas initial conflicts are minimally complete. Finally, we introduce important special cases of rules with ACs for which we can obtain finite, minimally (M-)complete sets of conflicts.
Bitcoin is gaining traction as an alternative store of value. Its market capitalization transcends all other cryptocurrencies in the market. But its high monetary value also makes it an attractive target to cyber criminal actors. Hacking campaigns usually target an ecosystem's weakest points. In Bitcoin, the exchange platforms are one of them. Each exchange breach is a threat not only to direct victims, but to the credibility of Bitcoin's entire ecosystem. Based on an extensive analysis of 36 breaches of Bitcoin exchanges, we show the attack patterns used to exploit Bitcoin exchange platforms using an industry standard for reporting intelligence on cyber security breaches. Based on this we are able to provide an overview of the most common attack vectors, showing that all except three hacks were possible due to relatively lax security. We show that while the security regimen of Bitcoin exchanges is subpar compared to other financial service providers, the use of stolen credentials, which does not require any hacking, is decreasing. We also show that the amount of BTC taken during a breach is decreasing, as well as the exchanges that terminate after being breached. Furthermore we show that overall security posture has improved, but still has major flaws. To discover adversarial methods post-breach, we have analyzed two cases of BTC laundering. Through this analysis we provide insight into how exchange platforms with lax cyber security even further increase the intermediary risk introduced by them into the Bitcoin ecosystem.