人类基因组拷贝数变异的临床解读
Clinical interpretation of copy number variants in the human genome.
作者信息
Nowakowska Beata
机构信息
Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, Poland.
出版信息
J Appl Genet. 2017 Nov;58(4):449-457. doi: 10.1007/s13353-017-0407-4. Epub 2017 Sep 30.
Abstract
Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years. Despite this, some CNVs continue to be a huge challenge when it comes to clinical interpretation. CNVs are an important source of normal and pathogenic variants, but, in many cases, their impact on human health depends on factors that are not yet known. Therefore, perception of their clinical consequences can change over time, as our knowledge grows. This review summarises guidelines that facilitate correct classification of identified changes and discusses difficulties with the interpretation of rare, small CNVs.
摘要
在过去15年里，能够检测拷贝数变异（CNV）的分子方法已逐渐被引入常规诊断中。尽管如此，在临床解读方面，一些CNV仍然是巨大的挑战。CNV是正常变异和致病变异的重要来源，但在许多情况下，它们对人类健康的影响取决于尚不清楚的因素。因此，随着我们知识的增长，对其临床后果的认识可能会随时间而改变。本综述总结了有助于对已识别变化进行正确分类的指南，并讨论了罕见小CNV解读中的困难。
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