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欢迎收听最新医学研究播客！今天的焦点是颠覆性的非侵入性胎儿基因分型技术。一项突破性研究利用深度神经网络，首次实现了基于母体血浆中循环无细胞DNA的胎儿基因分型。这项技术不仅能够检测染色体异常，还能识别导致单基因疾病的点突变，将非侵入性产前检测（NIPT）推向了新的高度。研究团队通过独特的超深度全基因组测序数据，开发出高效模型，成功在孕早期第7周检测出三种有害突变。这一成果不仅提高了检测性能，也为临床应用带来了希望，帮助家庭和医疗提供者做出更明智的决策。这一研究发表在《生物信息学简报》上，影响因子高达6.8。让我们一起期待这一技术为产前诊断带来的革命性变化！
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