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Article
Open AccessGenotype–phenotype correlation in PRKN-associated Parkinson’s disease
Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants prese...
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Article
WEBAPIK: a body of structured knowledge on designing web APIs
With the rise in initiatives such as software ecosystems and Internet of Things (IoT), develo** robust web Application Programming Interfaces (web APIs) has become an increasingly important practice. One mai...
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Article
Open AccessAuthor Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data
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Article
Open AccessThe IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data
Open science and collaboration are necessary to facilitate the advancement of Parkinson’s disease (PD) research. Hackathons are collaborative events that bring together people with different skill sets and bac...
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Article
Open AccessNeuroanatomical correlates of genetic risk for obesity in children
Obesity has a strong genetic component, with up to 20% of variance in body mass index (BMI) being accounted for by common polygenic variation. Most genetic polymorphisms associated with BMI are related to gene...
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Chapter and Conference Paper
Transformer Models for Activity Mining in Knowledge-Intensive Processes
Mining useful information to analyze knowledge-intensive business processes requires data that describes activities of knowledge workers. Emails are widely used in organizations to provide support in the funct...
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Article
Open AccessGenome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects
Rapid-eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom of alpha-synucleinopathies and defines a more severe subtype. The genetic background o...
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Article
Frequency of QTc Interval Prolongation in Children and Adults with Williams Syndrome
QTc prolongation (≥ 460 ms), according to Bazett formula (QTcB), has been identified to be increased in Williams syndrome (WS) and suggested as a potential cause of increased risk of sudden cardiac death. The ...
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Article
Open AccessFine map** of the HLA locus in Parkinson’s disease in Europeans
We fine mapped the leukocyte antigen (HLA) region in 13,770 Parkinson’s disease (PD) patients, 20,214 proxy-cases, and 490,861 controls of European origin. Four HLA types were associated with PD after correction ...
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Article
Open AccessAn exploratory assessment of the applicability of direct-to-consumer genetic testing to translational research in Japan
In order to assess the applicability of a direct-to-consumer (DTC) genetic testing to translational research for obtaining new knowledge on relationships between drug target genes and diseases, we examined pos...
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Article
Modeling machine learning requirements from three perspectives: a case report from the healthcare domain
Implementing machine learning in an enterprise involves tackling a wide range of complexities with respect to requirements elicitation, design, development, and deployment of such solutions. Despite the necess...
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Article
RAPID: a knowledge-based assistant for designing web APIs
With the rise in initiatives such as software ecosystems and Internet of Things (IoT), develo** web Application Programming Interfaces (web APIs) has become an increasingly common practice. One main concern ...
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Article
Demographic characteristics, thromboembolism risk, and treatment patterns for patients with cold agglutinin disease in Japan
Cold agglutinin disease (CAD) is a rare, complement-mediated autoimmune hemolytic anemia. Patients with CAD in the United States and Europe have an increased incidence of thromboembolism (TE), but comparable i...
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Article
Designing Business Analytics Solutions
The design and development of data analytics systems, as a new type of information systems, has proven to be complicated and challenging. Model based approaches from information systems engineering can potenti...
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Article
Evaluating the comprehension of means-ends maps
Information and software systems development is rapidly changing due to exponential technology development. This acceleration is also impacting other technology or engineering domains. Thus, there is a need to...
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Chapter and Conference Paper
Getting to Win-Win in Inter-organizational Relationships Through Customer Segmentation
Coopetition describes a phenomenon in which actors simultaneously cooperate and compete with each other. A stable and sustainable coopetitive relationship is predicated on the presence of one or more win-win ...
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Chapter and Conference Paper
Towards a Catalog of Goals for Strategic Coopetition
Coopetition describes a phenomenon in which actors cooperate and compete simultaneously. Actors cooperate to grow collective benefits and compete to maximize individual shares. Coopetition is undergirded by co...
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Chapter and Conference Paper
Solution Patterns for Machine Learning
Despite the hype around machine learning (ML), many organizations are struggling to derive business value from ML capabilities. Design patterns have long been used in software engineering to enhance design eff...
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Chapter and Conference Paper
Managing and Simplifying Cognitive Business Operations Using Process Architecture Models
Enterprises increasingly rely on cognitive capabilities to enhance their core business processes by adopting systems that utilize machine learning and deep learning approaches to support cognitive decisions to...
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Article
Modeling Simultaneous Cooperation and Competition Among Enterprises
Coopetition (simultaneous cooperation and competition) between organizations has emerged as a prominent and critical industrial practice that allows organizations to increase combined welfare through cooperati...
