CNV-Z; a new tool for detecting copy number variation in next generation sequencing data

CNV-Z; a new tool for detecting copy number variation in next generation sequencing data

We developed an efficient approach to diagnostic copy number analysis of targeted gene panel or whole exome sequence (WES) data. Here we present CNV-Z as a new tool for detection of copy number variants (CNVs). Deletions and duplications of chromosomal regions are widely implicated in both genomic e...

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Bibliographic Details
Main Authors: Emma Adolfsson, Jon Jonasson, Aniruddh Kashyap, Anna Nordensköld, Anna Greén
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:SoftwareX
Subjects:
Copy number variations
CNV caller
CNV deletion
CNV duplication
Next generation sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2352711023002261

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