期刊
JOURNAL OF APPLIED GENETICS
卷 58, 期 4, 页码 449-457出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s13353-017-0407-4
关键词
Copy number variants; CNV interpretation; VOUS; Susceptibility loci; Genotype-phenotype correlations
资金
- National Science Centre [OPUS NCN 2015/17/B/NZ5/01357]
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.
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