MutationDistiller: user-driven identification of pathogenic DNA variants

MutationDistiller is a freely available online tool for user-driven analyses of Whole Exome Sequencing data. It offers a user-friendly interface aimed at clinicians and researchers, who are not necessarily bioinformaticians. MutationDistiller combines Mutation- Taster’s pathogenicity predictions with a phenotypebased approach. Phenotypic information is not limited to symptoms included in the Human Phenotype Ontology (HPO), but may also comprise clinical diagnoses and the suspected mode of inheritance. The search can be restricted to lists of candidate genes (e.g. virtual gene panels) and by tissue-specific gene expression. The inclusion of GeneOntology (GO) and metabolic pathways facilitates the discovery of hitherto unknown disease genes. In a novel approach, we trained MutationDistiller’s HPO-based prioritization on authentic genotype–phenotype sets obtained from ClinVar and found it to match or outcompete current prioritization tools in terms of accuracy. In the output, the program provides a list of potential disease mutations ordered by the likelihood of the affected genes to cause the phenotype. MutationDistiller provides links to gene-related information from various resources. It has been extensively tested by clinicians and their suggestions have been valued in many iterative cycles of revisions. The tool, a comprehensive documentation and examples are freely available at https://www.mutationdistiller.org

Spiders (Arachnida: Araneae) from vineyards and vineyard fallows along the Middle-Rhine area (Germany: Rheinland-Pfalz: Boppard, Oberwesel)

56 spider species have been recorded in a 4-hours-fieldtrip. Twelve of them are endangered according to the red data book for spiders in Germany. Some interesting species are mentioned with comments on their habitat preference and distribution limits. Figures of two species (Theridion nigrovariegatum, Dipoena erythropus) are given because of variation in their genitalia

A “Solvent-Free” Crystal Structure of [FeN(SiMe3)23] – Synthesis, Structure and Properties

For the synthesis of the ferric bis(trimethylsilyl)amido complex [Fe{N(SiMe3)2}3] literature gives differing synthetic protocols based on crystallization from solution. In this report we present a ‘solvent‐free’ structural phase of [Fe{N(SiMe$_{3}$)$_{2}$}$_{3}$] which was isolated by sublimation of the product obtained from the reaction of 2 eq FeCl$_{3}$ with 3 eq LiN(SiMe$_{3}$)$_{2}$ in benzene. It could be characterized by single crystal as well as powder XRD and elemental analysis. However, $_{57}$Fe Mößbauer spectroscopy suggests a contamination of the main product with an Fe(II) species. Also, a part of the solid reaction byproducts from the reactions in solution were identified by powder XRD and $_{7}$Li MAS NMR which indicate distinct redox side reactions between oxidizing FeCl$_{3}$ and reducing LiN(SiMe$_{3}$)$_{2}$, a fact which rationalizes the lower than expected yields and the observation of an Fe(II) impurity compound. AC magnetic measurements of [Fe{N(SiMe$_{3}$)$_{2}$}$_{3}$] ave been performed in an extended frequency range up to 10$^{4}$ s$^{-1}$ allowing for a more precise evaluation of the magnetic relaxation parameters when compared to previously published measurements

Integrated vehicle dynamics control for a mechatronic railway running gear

Safety is especially for high-speed railway traffic one of the main aspects that has to be continuously improved to sustainably strengthen the railway sector and shift the modal split. To overcome the limitations of passive systems, an active control of mechatronic running gears provides essential advantages. In the present work, the focus is on the active control of lateral and longitudinal dynamics which are closely coupled via the tangential wheel-rail contact. Therefore, the introduced integrated control concept combines lateral and longitudinal control tasks. After the description of the lateral and longitudinal sub-level controllers the benefits of the integrated control are demonstrated. A comparison of the developed concept with a reference control using a preallocated torque for the lateral track guidance is drawn. The results of a simulation including volatile wheel-rail conditions and a jump in the desired lateral position underline the potential of integrated control to reduce braking distances and simultaneously improve lateral stability

Beobachterbasierte Kraftschlussregelung von Scheibenbremssystemen

Die vorliegende Arbeit befasst sich mit einem neuartigen kraftschlussbasierten Regelkonzept (adhesion-based control) von Scheibenbremssystemen zur Verkürzung von Bremswegen unter widrigen Streckenbedingungen. Die hierfür benötigte Information zum aktuell ausgenutzten Kraftschluss wird durch ein Extended Kalman Filter geschätzt und der Sliding-Mode-Regelung zugeführt. Die vorgestellte Kombination von Regler und Beobachter ermöglicht, dass auch bei sich verändernden Streckenbedingungen während eines Bremsvorgangs stets nahe am Kraftschlussoptimum gebremst wird. Dieser Vorteil wird in einer Simulation veranschaulicht und die Ergebnisse werden mit einem schlupfbasierten Gleitschutzregler verglichen. Eine Bremswegverkürzung um rund 15% in diesem Szenario unterstreicht das Potential des entwickelten kraftschlussbasierten Ansatzes

The effect of electrochemically inactive Ti substituted for Ru in Li2Ru1-Ti O3 on structure and electrochemical performance

The approach of substituting electrochemically active with inactive elements has widely been used to improve the electrochemical performance of Li-rich intercalation cathode materials. This especially is true for Li-rich compounds where almost all of the Li$^{+}$ ions are reversibly (de)intercalated during electrochemical cycling. The beneficial mechanism behind this substitution with electrochemically inactive elements is still not clear yet. Li$_{2}$RuO$_{3}$ is chosen as basis for a model solid solution system to investigate the effect of electrochemically inactive elements owing to its high specific capacity of more than 300 mAh g$^{-1}$ and the significant contribution of anion redox mechanism. Herein, Li$_{2}$Ru$_{1-x }$Ti$_{x}$O$_{3}$ solid solution series are synthesized and the effect of substituting with electrochemical inactive Ti for Ru on structure and electrochemical performance have been comprehensively investigated. The electrochemical performance is significantly improved, especially for Li$_{2}$Ru$_{0.8}$Ti$_{0.2}$O$_{3}$, and the capacity retention after 50 cycles increases from 81% to 90%, as compared to the end member Li$_{2}$RuO$_{3}$. Results of electrochemical impedance spectroscopy show that Ti substitution reduces the charge transfer impedance, which favors the Li$^{+}$ diffusion across the electrolyte–electrode interface and improves the electronic conductivity. For the first time, nuclear magnetic resonance was utilized to confirm that a small part of Ti ions exchange their position with Li ions in the Li layer. This research provides a better understanding of electrochemical inactive element substitution and strong insights for the functional design of the next generation of Li-rich cathode materials