Mohammadi et al. report the development of ANEVA–ANEVA-DOT, a statistical model that quantifies variation in gene dosage, and demonstrate its potential for identifying genes harbouring rare pathogenic variants.

中文翻译：

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罕见病诊断的统计框架。

穆罕默迪等人。报告了 ANEVA-ANEVA-DOT 的发展，这是一种量化基因剂量变化的统计模型，并证明其在识别含有罕见致病变异的基因方面的潜力。