40 research outputs found

    EpiDiP/NanoDiP: a versatile unsupervised machine learning edge computing platform for epigenomic tumour diagnostics.

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    DNA methylation analysis based on supervised machine learning algorithms with static reference data, allowing diagnostic tumour typing with unprecedented precision, has quickly become a new standard of care. Whereas genome-wide diagnostic methylation profiling is mostly performed on microarrays, an increasing number of institutions additionally employ nanopore sequencing as a faster alternative. In addition, methylation-specific parallel sequencing can generate methylation and genomic copy number data. Given these diverse approaches to methylation profiling, to date, there is no single tool that allows (1) classification and interpretation of microarray, nanopore and parallel sequencing data, (2) direct control of nanopore sequencers, and (3) the integration of microarray-based methylation reference data. Furthermore, no software capable of entirely running in routine diagnostic laboratory environments lacking high-performance computing and network infrastructure exists. To overcome these shortcomings, we present EpiDiP/NanoDiP as an open-source DNA methylation and copy number profiling suite, which has been benchmarked against an established supervised machine learning approach using in-house routine diagnostics data obtained between 2019 and 2021. Running locally on portable, cost- and energy-saving system-on-chip as well as gpGPU-augmented edge computing devices, NanoDiP works in offline mode, ensuring data privacy. It does not require the rigid training data annotation of supervised approaches. Furthermore, NanoDiP is the core of our public, free-of-charge EpiDiP web service which enables comparative methylation data analysis against an extensive reference data collection. We envision this versatile platform as a useful resource not only for neuropathologists and surgical pathologists but also for the tumour epigenetics research community. In daily diagnostic routine, analysis of native, unfixed biopsies by NanoDiP delivers molecular tumour classification in an intraoperative time frame

    Radiolabelled peptides for oncological diagnosis

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    Radiolabelled receptor-binding peptides targeting receptors (over)expressed on tumour cells are widely under investigation for tumour diagnosis and therapy. The concept of using radiolabelled receptor-binding peptides to target receptor-expressing tissues in vivo has stimulated a large body of research in nuclear medicine. The 111In-labelled somatostatin analogue octreotide (OctreoScan™) is the most successful radiopeptide for tumour imaging, and was the first to be approved for diagnostic use. Based on the success of these studies, other receptor-targeting peptides such as cholecystokinin/gastrin analogues, glucagon-like peptide-1, bombesin (BN), chemokine receptor CXCR4 targeting peptides, and RGD peptides are currently under development or undergoing clinical trials. In this review, we discuss some of these peptides and their analogues, with regard to their potential for radionuclide imaging of tumours

    Cranial antomy of tadpoles of five species of Scinax (Hylidae: Hylinae)

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    We studied the oral apparatus, buccal cavity and musculoskeletal features in tadpoles of five species of the genus Scinax (S. acuminatus, S. uruguayus, S. aff. pinima, S. aromothyella, and S. berthae). Observed variation is mainly related to intrageneric grouping. Scinax acuminatus (S. ruber clade, sister taxon of S. rostratus group) has a distinctive combination of a mental gap in the margin of oral papillae, straight labial teeth with few or absent cusps, processus muscularis acute and posteriorly directed, and m. subarcualis rectus I with two slips. Scinax uruguayus and S. aff. pinima (S. uruguayus group) have keratinized sheets ventrolateral to the lower jaw sheath, well-developed infralabial and lateral ridge papillae, robust jaw cartilages, cornua trabeculae with short and widely divergent free portions, processus articularis short and wide, processus muscularis thin and directed anteriorly. Scinax aromothyella and S. berthae (S. catharinae group) have poorly developed, non-colored spurs behind the lower jaw sheath, long and thin processus articularis, wide and rounded processus muscularis, and tripartite cartilago suprarostralis. Anatomical features described are congruent with current phylogenetic arrangements based on molecular, chromosomal, and morphological data, and provide a source of information that can be useful to solve interspecific relationships within Scinax.Fil: Alcalde, Leandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Limnología "Dr. Raúl A. Ringuelet". Universidad Nacional de La Plata. Facultad de Ciencias Naturales y Museo. Instituto de Limnología; ArgentinaFil: Vera Candioti, María Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico - Tucumán. Unidad Ejecutora Lillo; ArgentinaFil: Kolenc, F.. Museo Nacional de Historia Natural; UruguayFil: Borteiro, C.. Museo Nacional de Historia Natural; UruguayFil: Baldo, Diego. Fundación Miguel Lillo; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; Argentin
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