Abstract:Motivation: High-throughput sequencing (HTS) enables population-scale genomics but generates massive datasets, creating bottlenecks in storage, transfer, and analysis. FASTQ, the standard format for over two decades, stores one byte per base and one byte per quality score, leading to inefficient I/O, high storage costs, and redundancy. Existing compression tools can mitigate some issues, but often introduce costly decompression or complex dependency issues. Results: We introduce FASTR, a lossless, computation-native successor to FASTQ that encodes each nucleotide together with its base quality score into a single 8-bit value. FASTR reduces file size by at least 2x while remaining fully reversible and directly usable for downstream analyses. Applying general-purpose compression tools on FASTR consistently yields higher compression ratios, 2.47, 3.64, and 4.8x faster compression, and 2.34, 1.96, 1.75x faster decompression than on FASTQ across Illumina, HiFi, and ONT reads. FASTR is machine-learning-ready, allowing reads to be consumed directly as numerical vectors or image-like representations. We provide a highly parallel software ecosystem for FASTQ-FASTR conversion and show that FASTR integrates with existing tools, such as minimap2, with minimal interface changes and no performance overhead. By eliminating decompression costs and reducing data movement, FASTR lays the foundation for scalable genomics analyses and real-time sequencing workflows. Availability and Implementation: https://github.com/ALSER-Lab/FASTR
Abstract:Data scarcity hinders deep learning for medical imaging. We propose a framework for breast cancer classification in thermograms that addresses this using a Diffusion Probabilistic Model (DPM) for data augmentation. Our DPM-based augmentation is shown to be superior to both traditional methods and a ProGAN baseline. The framework fuses deep features from a pre-trained ResNet-50 with handcrafted nonlinear features (e.g., Fractal Dimension) derived from U-Net segmented tumors. An XGBoost classifier trained on these fused features achieves 98.0\% accuracy and 98.1\% sensitivity. Ablation studies and statistical tests confirm that both the DPM augmentation and the nonlinear feature fusion are critical, statistically significant components of this success. This work validates the synergy between advanced generative models and interpretable features for creating highly accurate medical diagnostic tools.