这篇文章介绍了他们开发的一种名为MARLIN 的新框架，该框架利用全基因组DNA甲基化分析和人工神经网络，实现了对急性白血病的快速、准确分类。研究人员首先建立了一个包含 2,540 个样本的综合参考队列，并定义了 38 个甲基化类别，这些类别通常与传统的病理分类和遗传特征相符，同时揭示了疾病的更多异质性。通过将MARLIN分类器与纳米孔测序技术结合，研究显示可以在数小时内对疑似急性白血病患者进行分类，在回顾性和前瞻性队列中均表现出高准确性，从而有望补充并改进标准护理诊断流程。References: Steinicke T L, Benfatto S, Guerra M R C, et al. Rapid Epigenomic Classification of Acute Leukemia[J]. Blood, 2024, 144: 273.
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