Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGH

Copy number variations (CNVs) represent a type of structural variant involving alterations in the number of copies of specific regions of DNA that can either be deleted or duplicated. CNVs contribute substantially to normal population variability, however, abnormal CNVs cause numerous genetic disord...

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Detalles Bibliográficos
Autores principales: Kucharík, Marcel, Budiš, Jaroslav, Hýblová, Michaela, Minárik, Gabriel, Szemes, Tomáš
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8071346/
https://www.ncbi.nlm.nih.gov/pubmed/33920867
http://dx.doi.org/10.3390/diagnostics11040708

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8071346/
https://www.ncbi.nlm.nih.gov/pubmed/33920867
http://dx.doi.org/10.3390/diagnostics11040708

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