Unlabelled: Visualizing read alignments is the most effective way to validate candidate structural variants (SVs) with existing data. We present svviz, a sequencing read visualizer for SVs that sorts and displays only reads relevant to a candidate SV. svviz works by searching input bam(s) for potentially relevant reads, realigning them against the inferred sequence of the putative variant allele as well as the reference allele and identifying reads that match one allele better than the other. Separate views of the two alleles are then displayed in a scrollable web browser view, enabling a more intuitive visualization of each allele, compared with the single reference genome-based view common to most current read browsers. The browser view facilitates examining the evidence for or against a putative variant, estimating zygosity, visualizing affected genomic annotations and manual refinement of breakpoints. svviz supports data from most modern sequencing platforms.
Availability And Implementation: svviz is implemented in python and freely available from http://svviz.github.io/.
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http://dx.doi.org/10.1093/bioinformatics/btv478 | DOI Listing |
Biochemistry
January 2025
Department of Biological Sciences, Indian Institute of Science Education and Research Mohali, Sector 81, SAS Nagar, Manauli, Mohali, Punjab 140306, India.
Listeriolysin O (LLO) is a potent membrane-damaging pore-forming toxin (PFT) secreted by the bacterial pathogen . LLO belongs to the family of cholesterol-dependent cytolysins (CDCs), which specifically target cholesterol-containing cell membranes to form oligomeric pores and induce membrane damage. CDCs, including LLO, harbor designated pore-forming motifs.
View Article and Find Full Text PDFPLoS Pathog
January 2025
Department of Microbiology, Faculty of Science, University of Manitoba, Winnipeg, Manitoba, Canada.
RNA viruses have evolved numerous strategies to overcome host resistance and immunity, including the use of multifunctional proteases that not only cleave viral polyproteins during virus replication but also deubiquitinate cellular proteins to suppress ubiquitin (Ub)-mediated antiviral mechanisms. Here, we report an approach to attenuate the infection of Arabidopsis thaliana by Turnip Yellow Mosaic Virus (TYMV) by suppressing the polyprotein cleavage and deubiquitination activities of the TYMV protease (PRO). Performing selections using a library of phage-displayed Ub variants (UbVs) for binding to recombinant PRO yielded several UbVs that bound the viral protease with nanomolar affinities and blocked its function.
View Article and Find Full Text PDFActa Neurochir (Wien)
January 2025
Division of Pediatric Neurosurgery, Department of Neurosurgery, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Up to 40% of intracranial aneurysms arise from the anterior cerebral artery and anterior communicating artery (ACA-ACoA) complex. The vast variability of vessel anomalies and the surrounding critical structures correlate with severe morbidity and mortality rates in case of rupture. In the era of cutting-edge advantages of endovascular procedures, surgical expertise is reducing.
View Article and Find Full Text PDFMov Disord Clin Pract
January 2025
Department of Neurology, Hannover Medical School, Hannover, Germany.
Background: Patients with Progressive Supranuclear Palsy (PSP) suffer from several neuropsychological impairments. These mainly affect the frontal lobe and subcortical brain structures. However, a scale for the assessment of cognitive and neuropsychiatric disability in PSP is still missing.
View Article and Find Full Text PDFInt J Gynecol Pathol
January 2025
Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
The term verruciform acanthotic vulvar intraepithelial neoplasia (vaVIN) was coined to describe HPV-independent p53-wildtype lesions with characteristic clinicopathologic characteristics and association with vulvar squamous cell carcinoma (vSCC). We aimed to expand on the molecular landscape of vaVIN using comprehensive sequencing and copy number variation profiling. vaVIN diagnosis in institutional cases was confirmed by a second review, plus negative p16 and wildtype p53 by immunohistochemistry.
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