arXiv:2501.09218q-bio.QMcs.AI2025-01被引 1

用AI自动分析滴液数字PCR图像,准确率达99.05%

Interpretable Droplet Digital PCR Assay for Trustworthy Molecular Diagnostics

  • 结合神经网络与大语言模型,自动分割分类滴液并生成解释
  • 单图处理超300滴液,检测下限达90.32拷贝/微升
  • 适合临床诊断、科研及资源匮乏地区使用

精确的分子定量对传染病、癌症生物学和遗传病研究至关重要。滴液数字PCR(ddPCR)已成为绝对定量的金标准。尽管计算ddPCR技术已显著进步,但在不同操作环境下实现自动解读和一致适应性仍是挑战。为此,我们提出智能可解释滴液数字PCR(I2ddPCR)检测框架,整合前端预测模型(用于滴液分割与分类)与GPT-4o多模态大语言模型(用于上下文感知解释与建议),实现ddPCR图像分析的自动化与增强。该方法在含超过300个滴液/图像且信噪比各异的复杂图像上达到99.05%的准确率。通过结合专用神经网络与大语言模型,I2ddPCR提供稳健且可适应的绝对分子定量方案,灵敏度可检测低丰度目标至90.32拷贝/μL。此外,其通过详细解释与故障排查指导提升模型透明度,帮助用户做出知情决策。该创新框架有望推动分子诊断、疾病研究及临床应用,尤其适用于资源受限环境。

原文摘要 · Abstract (English)

Accurate molecular quantification is essential for advancing research and diagnostics in fields such as infectious diseases, cancer biology, and genetic disorders. Droplet digital PCR (ddPCR) has emerged as a gold standard for achieving absolute quantification. While computational ddPCR technologies have advanced significantly, achieving automatic interpretation and consistent adaptability across diverse operational environments remains a challenge. To address these limitations, we introduce the intelligent interpretable droplet digital PCR (I2ddPCR) assay, a comprehensive framework integrating front-end predictive models (for droplet segmentation and classification) with GPT-4o multimodal large language model (MLLM, for context-aware explanations and recommendations) to automate and enhance ddPCR image analysis. This approach surpasses the state-of-the-art models, affording 99.05% accuracy in processing complex ddPCR images containing over 300 droplets per image with varying signal-to-noise ratios (SNRs). By combining specialized neural networks and large language models, the I2ddPCR assay offers a robust and adaptable solution for absolute molecular quantification, achieving a sensitivity capable of detecting low-abundance targets as low as 90.32 copies/μL. Furthermore, it improves model's transparency through detailed explanation and troubleshooting guidance, empowering users to make informed decisions. This innovative framework has the potential to benefit molecular diagnostics, disease research, and clinical applications, especially in resource-constrained settings.

分子诊断AI分析ddPCR可解释性

Thank you to arXiv for use of its open access interoperability. PaperDance 不是 arXiv 官方产品;中文卡片由大模型生成,请以原文为准。