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SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar AtaxiasNARA Subscribed
With SCAview, we present a prompt and comprehensive tool that enables scientists to browse large datasets of the most common spinocerebellar ataxias intuitively and without technical effort. Basic concept is a visualization of data, with a graphical handling and filtering to select and define subgroups and their comparison. Several plot types to visualize all data points resulting from the selected attributes are provided. The...
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severityNARA Subscribed
The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the pr...
Multicomponent diffusion in ionic crystals: theoretical model and application to combined tracer- and interdiffusion in alkali feldsparNARA Subscribed
We present a model for multicomponent diffusion in ionic crystals. The model accounts for vacancy-mediated diffusion on a sub-lattice and for diffusion due to binary exchange of different ionic species without involvement of vacancies on the same sub-lattice. The diffusive flux of a specific ionic species depends on the self-diffusion coefficients, on the diffusion coefficients related to the binary exchanges, and on the site...
CD4+ Regulatory and Effector/Memory T Cell Subsets Profile Motor Dysfunction in Parkinson’s DiseaseNARA Subscribed
Animal models and clinical studies have linked the innate and adaptive immune system to the pathology of Parkinson’s disease (PD). Despite such progress, the specific immune responses that influence disease progression have eluded investigators. Herein, we assessed relationships between T cell phenotype and function with PD progression. Peripheral blood lymphocytes from two separate cohorts, a discovery cohort and a validation...
We report the results of a comprehensive search of Drosophila melanogaster DNA sequences in GenBank for di‐, tri‐, and tetranucleotide repeats of more than four repeat units, and a DNA library screen for dinucleotide repeats. Dinucleotide repeats are more abundant (66%) than tri‐ (30%) or tetranucleotide (4%) repeats. We estimate that 1917 dinucleotide repeats with 10 or more repeat units are present in the euchromatic D. mela...
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