Rapid and reliable detection of disease-associated DNA methylation patterns has major potential to advance molecular diagnostics and underpin research investigations. We describe the development and validation of minimal methylation classifier (MIMIC), combining CpG signature design from genome-wide datasets, multiplex-PCR and detection by single-base extension and MALDI-TOF mass spectrometry, in a novel method to assess multi-locus DNA methylation profiles within routine clinically-applicable assays. We illustrate the application of MIMIC to successfully identify the methylation-dependent diagnostic molecular subgroups of medulloblastoma (the most common malignant childhood brain tumour), using scant/low-quality samples remaining from the most recently completed pan-European medulloblastoma clinical trial, refractory to analysis by conventional genome-wide DNA methylation analysis.
View Article and Find Full Text PDFIntroduction: This study assessed mutation detection and functional characteristics across 13 distinct technologies and assays available in clinical practice, in a blinded manner.
Methods: Five distinct -mutant cell lines were used to study five clinically relevant mutations: p.G12C, p.
Background: Anticardiolipin antibodies (antiCl), present in some patients with autoimmune disease, are associated with thrombosis, fetal loss, and other conditions. A significant proportion of patients with chronic periodontitis (CP) test positive for antiCl, likely because some periodontal pathogens contain antigens homologous to the target antigen of antiCl on the serum protein β-2 glycoprotein-I (β2GPI) and thus can induce antiCl by molecular mimicry. The authors hypothesized that treatment of periodontitis by scaling and root planing (SRP) could therefore decrease serum titers of antiCl in patients with CP.
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