Technological advances and the widespread use of medical imaging have led to a rise within the identification of pancreatic cysts in sufferers who endure cross-sectional imaging.
Current strategies for the prognosis and risk-stratification of pancreatic cysts are suboptimal, leading to each pointless surgical resection and missed instances of neoplasia. Accurate prognosis is essential for guiding how a pancreatic cyst is managed, whether or not with surveillance for low-risk lesions or surgical resection for high-risk lesions.
This evaluation goals to summarize the present literature on confocal endomicroscopy and cyst fluid molecular evaluation for the analysis of pancreatic cysts. These current applied sciences are promising adjuncts to present approaches with the potential to enhance diagnostic accuracy and finally affected person outcomes.
PipeIT: A Singularity Container for Molecular Diagnostic Somatic Variant Calling on the Ion Torrent Next-Generation Sequencing Platform.
The correct identification of somatic mutations has grow to be a pivotal part of tumor profiling and precision drugs. In molecular diagnostics laboratories, somatic mutation analyses on the Ion Torrent sequencing platform are sometimes carried out on the Ion Reporter platform, which requires intensive guide evaluation of the outcomes and lacks optimized evaluation workflows for customized focused sequencing panels.
Alternative options that contain customized bioinformatics pipelines contain the sequential execution of software program instruments with quite a few parameters, resulting in poor reproducibility and portability. We describe PipeIT, a stand-alone Singularity container of a somatic mutation calling and filtering pipeline for matched tumor-normal Ion Torrent sequencing knowledge.
PipeIT is ready to establish pathogenic variants in BRAF, KRAS, PIK3CA, CTNNB1, TP53, and different most cancers genes that the clinical-grade Oncomine workflow recognized.
In addition, PipeIT evaluation of tumor-normal paired knowledge generated on a customized focused sequencing panel achieved 100% optimistic predictive worth and 99% sensitivity in contrast with the 68% to 80% optimistic predictive worth and 92% to 96% sensitivity utilizing the default tumor-normal paired Ion Reporter workflow, considerably lowering the necessity for guide curation of the outcomes. PipeIT may be quickly deployed to and ensures reproducible ends in any laboratory and may be executed with a single command with minimal enter information from the customers.