medRxiv 临床预印· Domingo, A., Yao, D., Kshatriya, N., Mangkalaphiban, K., Battistella, G., O'Flynn, L., Reese, B., Hincher, M., Yadav, R., Sharma, N., Williams, L., Fearon, C., Killian, O., Reilly, R. B., Hutchinson, M., Raymond, D., Saunders-Pullman, R., Bressman, S., Frucht, S., Talkowski, M., Simonyan, K., Ozelius, L. ·· 1 天前AI 评分38
DystoniaGeneNet 结合影像内表型发现局灶性肌张力障碍新致病基因
Perisynaptic matrix gene variants underlie DystoniaGeneNet endophenotypes in isolated focal dystonia
AI 导读
研究团队开发 3D 卷积神经网络 DystoniaGeneNet，从 T1 加权脑 MRI 预测家族性状态，在训练集区分家族性肌张力障碍与健康对照，独立家族性病例分类正确率 85.7%，生物标志物定位于胼胝体和颞下回。
来源：medRxiv 临床预印 · medrxiv.org