Basecalling-free resistance gene identification using a hybrid transformer in raw nanopore signals

利用混合转换器在原始纳米孔信号中实现无需碱基识别的抗性基因鉴定

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Abstract

Nanopore sequencing enables real-time access to raw signal data, which brings new possibilities for rapid genomic diagnostics. However, current workflows still primarily rely on basecalling, a computationally intensive step that slows subsequent analysis and limits real-time use. In addition, most current approaches that work with raw signals focus on simple read-level classification tasks and are not designed to detect and localize specific genes, particularly complex genomic features such as antibiotic resistance genes (ARGs). Here, we show that the hybrid convolutional-transformer model, NanoResFormer, can detect clinically relevant ARGs directly from raw nanopore signals without basecalling. The model captures both local and long-range signal patterns and employs a floating-window strategy to process inputs of varying lengths efficiently. In proof-of-concept experiments, NanoResFormer achieved a sensitivity of 92.6% and a precision of over 93%, with short latency, enabling real-time resistome profiling already during sequencing. The proposed approach, therefore, provides rapid access to crucial information, accelerating decision-making in clinical diagnostics and pathogen surveillance.

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