AIMS
Despite continuous improvements in diagnostic tools, the diagnosis of acute myocardial infarction (AMI) is still based on electrocardiogram (ECG) and cardiac biomarkers supported by other non-invasive imaging techniques. However, ECG has limited sensitivity, while high-sensitivity troponin assays may show reduced...
F. Giacobbe, O. de Filippo, M. Petracca et al.· Cardiovascular Research· 0 citations
Mutational signatures reveal cancer-driving processes with clinical relevance: MMR-deficient tumors respond better to immunotherapy, HRD tumors are sensitive to PARP inhibitors, and POLE-mutant tumors often have high mutation burdens influencing treatment response. Yet signature profiling remains limited by the cost, c...
Flavio Sartori, C. Rollo, Isabella Caranzano et al.· 0 citations
Sickle cell disease (SCD) presents substantial interindividual clinical variability that remains only partially explained by genotype, fetal hemoglobin (HbF), and co-inherited alpha-thalassemia. We investigated whether endogenous metabolites modulate the sickling tendency, independently of HbF. We analyzed 368 steady-s...
S. van der Veen, A. Idrizovic, T. Sanavia et al.· Blood Cells, Molecules & Dis...· 0 citations
A thermodynamic decomposition of the human mutation field is given: most mutation bias is organized by a local equilibrium-like energy landscape aligned with genome composition, while the residual circulation points to specific directional mutational mechanisms.
Isabella Caranzano, D. M. Busiello, Stefano Priorelli et al.· 0 citations
It is demonstrated that it is feasible to train a deep generative model for dimensionality reduction with millions of features using few samples, which makes this type of generative model a more versatile alternative to standard methods for dimensionality reduction.
C. Pancotti, P. Fariselli, J. Meisner et al.· bioRxiv· 0 citations
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