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Review
. 2017 Nov;58(4):449-457.
doi: 10.1007/s13353-017-0407-4. Epub 2017 Sep 30.

Clinical interpretation of copy number variants in the human genome

Beata Nowakowska  1
Affiliations
Review

Clinical interpretation of copy number variants in the human genome

Beata Nowakowska. J Appl Genet. 2017 Nov.

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.

Keywords: CNV interpretation; Copy number variants; Genotype–phenotype correlations; Susceptibility loci; VOUS.

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Conflict of interest statement

Conflict of interest

The author declares that she has no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by the author.

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