用指纹图像识别两种罕见病,辅助临床诊断。
An Interpretable Vision Transformer as a Fingerprint-Based Diagnostic Aid for Kabuki and Wiedemann-Steiner Syndromes
- 基于视觉变换器分析指纹图像,自动区分疾病与正常人。
- 对两种综合征的分类准确率最高达AUC 0.85,F1达0.83。
- 通过注意力机制可视化关键区域,模型结果可解释,适合临床使用。
Kabuki综合征(KS)和Wiedemann-Steiner综合征(WSS)是两种罕见但有明显差异的发育障碍,临床表现重叠,包括神经发育迟缓、生长受限和持续性胎儿指尖垫。尽管基因检测是诊断金标准,但因检测和专家资源不足,许多患者仍未确诊。皮肤纹理异常虽为多种遗传综合征的特征,但在分子检测时代仍被忽视。本研究提出一种基于视觉变换器的深度学习模型,利用指纹图像区分KS、WSS患者与健康对照,以及两者之间的差异。在三个二分类任务中,模型分别取得AUC 0.80(对照 vs. KS)、0.73(对照 vs. WSS)和0.85(KS vs. WSS),对应F1分数为0.71、0.72和0.83。通过注意力可视化技术,识别出对预测最关键的指纹区域,增强模型可解释性。结果表明,两类综合征具有特异性指纹特征,验证了基于指纹的AI工具在无创、可解释、易获取的早期诊断中的可行性。
原文摘要 · Abstract (English)
Kabuki syndrome (KS) and Wiedemann-Steiner syndrome (WSS) are rare but distinct developmental disorders that share overlapping clinical features, including neurodevelopmental delay, growth restriction, and persistent fetal fingertip pads. While genetic testing remains the diagnostic gold standard, many individuals with KS or WSS remain undiagnosed due to barriers in access to both genetic testing and expertise. Dermatoglyphic anomalies, despite being established hallmarks of several genetic syndromes, remain an underutilized diagnostic signal in the era of molecular testing. This study presents a vision transformer-based deep learning model that leverages fingerprint images to distinguish individuals with KS and WSS from unaffected controls and from one another. We evaluate model performance across three binary classification tasks. Across the three classification tasks, the model achieved AUC scores of 0.80 (control vs. KS), 0.73 (control vs. WSS), and 0.85 (KS vs. WSS), with corresponding F1 scores of 0.71, 0.72, and 0.83, respectively. Beyond classification, we apply attention-based visualizations to identify fingerprint regions most salient to model predictions, enhancing interpretability. Together, these findings suggest the presence of syndrome-specific fingerprint features, demonstrating the feasibility of a fingerprint-based artificial intelligence (AI) tool as a noninvasive, interpretable, and accessible future diagnostic aid for the early diagnosis of underdiagnosed genetic syndromes.
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