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Clinical interpretation of copy number variants in the human genome

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...

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Detalles Bibliográficos
Autor principal: Nowakowska, Beata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655614/
https://www.ncbi.nlm.nih.gov/pubmed/28963714
http://dx.doi.org/10.1007/s13353-017-0407-4