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...

Description complète

Détails bibliographiques
Auteurs principaux: Emma Adolfsson, Jon Jonasson, Aniruddh Kashyap, Anna Nordensköld, Anna Greén
Format: Article
Langue:English
Publié: Elsevier 2023-12-01
Collection:SoftwareX
Sujets:
Copy number variations
CNV caller
CNV deletion
CNV duplication
Next generation sequencing
Accès en ligne:http://www.sciencedirect.com/science/article/pii/S2352711023002261

Internet

http://www.sciencedirect.com/science/article/pii/S2352711023002261

Documents similaires