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生物通
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KF-NIPT:基于k-mer和胎儿分数的无创产前检测新算法 ...
核心技术包括:1) 优化WGS数据处理流程,校正GC含量偏差和映射质量;2) 计算染色体特异性k-mer计数归一化值 (KCV);3) 整合SeqFF胎儿分数估算方法;4) 构建基于中位数绝对偏差 (MAD)的KF-score模型,公式为KF-score chr (i) = 0.6745× (KCV chr (i) -median kcv)/ (MAD×胎儿分数)。
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