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Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.
Kyub
(2019)
We present an interactive editing system for laser cutting called kyub. Kyub allows users to create models efficiently in 3D, which it then unfolds into the 2D plates laser cutters expect. Unlike earlier systems, such as FlatFitFab, kyub affords construction based on closed box structures, which allows users to turn very thin material, such as 4mm plywood, into objects capable of withstanding large forces, such as chairs users can actually sit on. To afford such sturdy construction, every kyub project begins with a simple finger-joint "boxel"-a structure we found to be capable of withstanding over 500kg of load. Users then extend their model by attaching additional boxels. Boxels merge automatically, resulting in larger, yet equally strong structures. While the concept of stacking boxels allows kyub to offer the strong affordance and ease of use of a voxel-based editor, boxels are not confined to a grid and readily combine with kuyb's various geometry deformation tools. In our technical evaluation, objects built with kyub withstood hundreds of kilograms of loads. In our user study, non-engineers rated the learnability of kyub 6.1/7.
DualPanto
(2018)
We present a new haptic device that enables blind users to continuously track the absolute position of moving objects in spatial virtual environments, as is the case in sports or shooter games. Users interact with DualPanto by operating the me handle with one hand and by holding on to the it handle with the other hand. Each handle is connected to a pantograph haptic input/output device. The key feature is that the two handles are spatially registered with respect to each other. When guiding their avatar through a virtual world using the me handle, spatial registration enables users to track moving objects by having the device guide the output hand. This allows blind players of a 1-on-1 soccer game to race for the ball or evade an opponent; it allows blind players of a shooter game to aim at an opponent and dodge shots. In our user study, blind participants reported very high enjoyment when using the device to play (6.5/7).
TrussFormer
(2019)
We present TrussFormer, an integrated end-to-end system that allows users to 3D print large-scale kinetic structures, i.e., structures that involve motion and deal with dynamic forces. TrussFormer builds on TrussFab, from which it inherits the ability to create static large-scale truss structures from 3D printed connectors and PET bottles. TrussFormer adds movement to these structures by placing linear actuators into them: either manually, wrapped in reusable components called assets, or by demonstrating the intended movement. TrussFormer verifies that the resulting structure is mechanically sound and will withstand the dynamic forces resulting from the motion. To fabricate the design, TrussFormer generates the underlying hinge system that can be printed on standard desktop 3D printers. We demonstrate TrussFormer with several example objects, including a 6-legged walking robot and a 4m-tall animatronics dinosaur with 5 degrees of freedom.
TrussFormer
(2018)
We present TrussFormer, an integrated end-to-end system that allows users to 3D print large-scale kinetic structures, i.e., structures that involve motion and deal with dynamic forces. TrussFormer builds on TrussFab, from which it inherits the ability to create static large-scale truss structures from 3D printed connectors and PET bottles. TrussFormer adds movement to these structures by placing linear actuators into them: either manually, wrapped in reusable components called assets, or by demonstrating the intended movement. TrussFormer verifies that the resulting structure is mechanically sound and will withstand the dynamic forces resulting from the motion. To fabricate the design, TrussFormer generates the underlying hinge system that can be printed on standard desktop 3D printers. We demonstrate TrussFormer with several example objects, including a 6-legged walking robot and a 4m-tall animatronics dinosaur with 5 degrees of freedom.
The availability of commercial 3D printers and matching 3D design software has allowed a wide range of users to create physical prototypes – as long as these objects are not larger than hand size. However, when attempting to create larger, "human-scale" objects, such as furniture, not only are these machines too small, but also the commonly used 3D design software is not equipped to design with forces in mind — since forces increase disproportionately with scale.
In this thesis, we present a series of end-to-end fabrication software systems that support users in creating human-scale objects. They achieve this by providing three main functions that regular "small-scale" 3D printing software does not offer: (1) subdivision of the object into small printable components combined with ready-made objects, (2) editing based on predefined elements sturdy enough for larger scale, i.e., trusses, and (3) functionality for analyzing, detecting, and fixing structural weaknesses. The presented software systems also assist the fabrication process based on either 3D printing or steel welding technology.
The presented systems focus on three levels of engineering challenges: (1) fabricating static load-bearing objects, (2) creating mechanisms that involve motion, such as kinematic installations, and finally (3) designing mechanisms with dynamic repetitive movement where power and energy play an important role.
We demonstrate and verify the versatility of our systems by building and testing human-scale prototypes, ranging from furniture pieces, pavilions, to animatronic installations and playground equipment. We have also shared our system with schools, fablabs, and fabrication enthusiasts, who have successfully created human-scale objects that can withstand with human-scale forces.
A catalog of genetic loci associated with kidney function from analyses of a million individuals
(2019)
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
Technical report
(2019)
Design and Implementation of service-oriented architectures imposes a huge number of research questions from the fields of software engineering, system analysis and modeling, adaptability, and application integration. Component orientation and web services are two approaches for design and realization of complex web-based system. Both approaches allow for dynamic application adaptation as well as integration of enterprise application.
Commonly used technologies, such as J2EE and .NET, form de facto standards for the realization of complex distributed systems. Evolution of component systems has lead to web services and service-based architectures. This has been manifested in a multitude of industry standards and initiatives such as XML, WSDL UDDI, SOAP, etc. All these achievements lead to a new and promising paradigm in IT systems engineering which proposes to design complex software solutions as collaboration of contractually defined software services.
Service-Oriented Systems Engineering represents a symbiosis of best practices in object-orientation, component-based development, distributed computing, and business process management. It provides integration of business and IT concerns.
The annual Ph.D. Retreat of the Research School provides each member the opportunity to present his/her current state of their research and to give an outline of a prospective Ph.D. thesis. Due to the interdisciplinary structure of the research school, this technical report covers a wide range of topics. These include but are not limited to: Human Computer Interaction and Computer Vision as Service; Service-oriented Geovisualization Systems; Algorithm Engineering for Service-oriented Systems; Modeling and Verification of Self-adaptive Service-oriented Systems; Tools and Methods for Software Engineering in Service-oriented Systems; Security Engineering of Service-based IT Systems; Service-oriented Information Systems; Evolutionary Transition of Enterprise Applications to Service Orientation; Operating System Abstractions for Service-oriented Computing; and Services Specification, Composition, and Enactment.