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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Bibliographic Details
Main Authors: Marcel Kucharík, Jaroslav Budiš, Michaela Hýblová, Gabriel Minárik, Tomáš Szemes
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Diagnostics
Subjects:
Online Access:https://www.mdpi.com/2075-4418/11/4/708