Introduction: The accurate distinction between benign and malignant biliary strictures (BS) poses a significant challenge. Despite the use of bile duct biopsies and brush cytology via endoscopic retrograde cholangiopancreaticography (ERCP), the results remain suboptimal. Single-operator cholangioscopy can enhance the diagnostic yield in BS, but its limited availability and high costs are substantial barriers.
View Article and Find Full Text PDFDespite advances in next generation sequencing (NGS), genetic diagnoses remain elusive for many patients with neurologic syndromes. Long-read sequencing (LRS) and optical genome mapping (OGM) technologies improve upon existing capabilities in the detection and interpretation of structural variation in repetitive DNA, on a single haplotype, while also providing enhanced breakpoint resolution. We performed LRS and OGM on two patients with known chromosomal rearrangements and inconclusive Sanger or NGS.
View Article and Find Full Text PDFBackground: Restraining or slowing ageing hallmarks at the cellular level have been proposed as a route to increased organismal lifespan and healthspan. Consequently, there is great interest in anti-ageing drug discovery. However, this currently requires laborious and lengthy longevity analysis.
View Article and Find Full Text PDFcauses ungulate morbidity and mortality in eastern and central North America, but no reference genome sequence exists to facilitate research. Here, we present a genome assembly and annotation, generated with PacBio and Illumina technologies. The assembly is 491 Mbp, with 7285 scaffolds and 185 kb N50.
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