Purpose Children with suspected rare genetic disorders often remain undiagnosed after exome, gene panel, or chromosomal microarray testing. We sought to define recurrent missed-diagnosis mechanisms and evaluate an integrated clinical-genomic reanalysis framework. Methods We studied 75 participants with rare or striking...
Hong-Qiu Gu, A. Sabo, S. Jangam et al.· medRxiv· 0 citations
A deep learning framework combining a 1D SE-ResNet with ICU-realistic data augmentations and a physics-informed auxiliary reconstruction task based on the three-element Windkessel hemodynamic model, implemented as a differentiable forward simulation is proposed.
Athanasios Papastathopoulos-Katsaros, A. Stavrianidi, Zhan-Dong Liu· 1 citation
Bag-of-waves is presented, an interpretable framework that learns a small dictionary of recurring EEG waveform templates, called atoms, using shift-invariant k-means without labels, and works in the low-data regime where heavier models are a poor fit.
Athanasios Papastathopoulos-Katsaros, Steven T. Lee, Lin Yao et al.· arXiv.org· 0 citations
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