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Optimizing sequence data analysis using convolution neural network for the prediction of CNV bait positions.
BMC Bioinformatics
December 2024
Albert Szent-Györgyi Health Centre, University of Szeged, Korányi fasor 14-15, Szeged, H-6725, Csongrád-Csanád, Hungary.
Background: Accurate prediction of copy number variations (CNVs) from targeted capture next-generation sequencing (NGS) data relies on effective normalization of read coverage profiles. The normalization process is particularly challenging due to hidden systemic biases such as GC bias, which can significantly affect the sensitivity and specificity of CNV detection. In many cases, the kit manifests provide only the genome coordinates of the targeted regions, and the exact bait design of the oligo capture baits is not available.
View Article and Find Full Text PDFPhotoswitchable Topological Regulation of Covalent Macrocycles, Molecular Recognition, and Interlocked Structures.
Angew Chem Int Ed Engl
December 2024
Chinese Academy of Sciences Fujian Institute of Research on the Structure of Matter, The State Key Laboratory of Structural Chemistry, 155 Yangqiao Road West, 350002, Fuzhou, CHINA.
Macrocycles represent one important class of functional molecules, and dynamic macrocycles with the potential of cleavability, adaptability, and topological conversion are challenging. Herein we report photoswitchable allosteric and topological control of dynamic covalent macrocycles and further the use in guest binding and mechanically interlocked molecules. The manipulation of competing ring-chain equilibria and bond formation/scission within reaction systems enabled light-induced structural regulation over dithioacetal and thioacetal dynamic bonds, accordingly realizing bidirectional switching between crown ether-like covalent macrocycles and their linear counterparts.
View Article and Find Full Text PDFPsychological telephone triage system for outpatient memory clinics - a way for adaptation to new challenges of increasing dementia prevalence and new treatment options?
Int J Clin Health Psychol
December 2024
University Hospital of Psychiatry I, Department of Psychiatry, Psychotherapy, Psychosomatics and Medical Psychology, Medical University of Innsbruck, Austria.
Background: The increasing prevalence of dementia and new therapeutic developments for Alzheimer's disease (AD) have created an urgent need for rapid and cost-effective methods to diagnose those affected in the early stages of the disease. Unlike emergency departments, memory clinics lack triage systems, e.g.
View Article and Find Full Text PDFUncovering Patterns in Overdose Deaths: An Analysis of Spike Identification in Fatal Drug Overdose Data in Massachusetts, 2017-2023.
Public Health Rep
December 2024
MGH Institute for Technology Assessment, Harvard Medical School, Boston, MA, USA.
Objectives: Yearly rolling aggregate trends or rates are commonly used to analyze trends in overdose deaths, but focusing on long-term trends can obscure short-term fluctuations (eg, daily spikes). We analyzed data on spikes in daily fatal overdoses and how various spike detection thresholds influence the identification of spikes.
Materials And Methods: We used a spike detection algorithm to identify spikes among 16 660 drug-related overdose deaths (from any drug) reported in Massachusetts' vital statistics from 2017 through 2023.
Mass Spectrometry-Based Glycomics and Proteomics Profiling of On-Slide Digested Tissue from Complex Biological Samples.
Methods Mol Biol
December 2024
Department of Biochemistry, Center for Biomedical Mass Spectrometry, Boston University School of Medicine, Boston, MA, USA.
Mass spectrometry-based investigation of the heterogeneous glycoproteome from complex biological specimens is a robust approach to mapping the structure, function, and dynamics of the glycome and proteome. Sampling whole wet tissues often provides a large amount of starting material; however, there is a reasonable variability in tissue handling prior to downstream processing steps, and it is difficult to capture all the different biomolecules from a specific region. The on-slide tissue digestion approach, outlined in this protocol chapter, is a simple and cost-effective method that allows comprehensive mapping of the glycoproteome from a single spot of tissue of 1 mm or greater diameter.
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