Generative adversarial network (GAN) creates synthetic images to increase data quantity, but whether GAN ensures meaningful morphologic variations is still unknown. We investigated whether GAN-based synthetic images provide sufficient morphologic var...
Circulation. Arrhythmia and electrophysiology
Feb 1, 2021
BACKGROUND: ECG interpretation requires expertise and is mostly based on physician recognition of specific patterns, which may be challenging in rare cardiac diseases. Deep neural networks (DNNs) can discover complex features in ECGs and may facilita...
This short article describes the method of digital cytopathology using Z-stack scanning with or without extended focusing. This technology is suitable to observe such thick clusters as adenocarcinoma on cytologic specimens. Artificial intelligence (A...
BACKGROUND: Phospholamban (PLN) p.Arg14del mutation carriers are known to develop dilated and/or arrhythmogenic cardiomyopathy, and typical electrocardiographic (ECG) features have been identified for diagnosis. Machine learning is a powerful tool us...
IMPORTANCE: Less than 10% of patients with cancer have detectable pathogenic germline alterations, which may be partially due to incomplete pathogenic variant detection.
Our understanding of noncoding mutations in cancer genomes has been derived primarily from mutational recurrence analysis by aggregating clinical samples on a large scale. These cohort-based approaches cannot directly identify individual pathogenic n...
European journal of preventive cardiology
Oct 1, 2020
AIMS: Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid metabolism. The gold standard for FH diagnosis is genetic testing, available, however, only in selected university hospitals. Clinical scores - for example, the Dut...
OBJECTIVES: To assess the diagnostic accuracy of machine learning (ML) in predicting isocitrate dehydrogenase (IDH) mutations in patients with glioma and to identify potential covariates that could influence the diagnostic performance of ML.
This paper proposes a sensitive, sample preparation-free, rapid, and low-cost method for the detection of the B-rapidly accelerated fibrosarcoma (BRAF) gene mutation involving a substitution of valine to glutamic acid at codon 600 (V600E) in colorect...
PURPOSE: SEER registries do not report results of epidermal growth factor receptor () and anaplastic lymphoma kinase () mutation tests. To facilitate population-based research in molecularly defined subgroups of non-small-cell lung cancer (NSCLC), we...