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Genomic Incidental Findings: Metaphors and Methods

机译:基因组偶然发现:隐喻和方法

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Much has been written about the promise of genome-scale sequencing in medicine, both for diagnosis of rare monogenic disorders and also perhaps as part of routine patient care.1 Yet no matter the indication, the vast majority of genetic variants in a given individual will be unrelated to the reason the test was performed, and thus could be considered "incidental" or "secondary" findings. Of these, nearly all will have minimal or no clinical implications, but each individual will have a heterogeneous assortment of clinically significant but unpredictable genetic variants
机译:关于基因组规模测序在医学中的前景已写了很多,既可以用于诊断罕见的单基因疾病,也可以作为常规患者护理的一部分。1然而,不管有什么迹象,给定个体中的绝大多数遗传变异都会与执行测试的原因无关,因此可以视为“偶然”或“次要”发现。在这些中,几乎所有都将具有最小的临床影响或没有临床意义,但是每个人将具有临床意义重大但无法预测的遗传变异的异质分类

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