Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

Clustered copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) are often reported as germline chromothripsis. However, such cases might need further investigations by massive parallel whole genome sequencing (WGS) in order to accurately define the underlying complex rearr...

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Bibliographic Details
Published in:PLoS Genet
Main Authors: Nazaryan-Petersen, Lusine, Eisfeldt, Jesper, Pettersson, Maria, Lundin, Johanna, Nilsson, Daniel, Wincent, Josephine, Lieden, Agne, Lovmar, Lovisa, Ottosson, Jesper, Gacic, Jelena, Mäkitie, Outi, Nordgren, Ann, Vezzi, Francesco, Wirta, Valtteri, Käller, Max, Hjortshøj, Tina Duelund, Jespersgaard, Cathrine, Houssari, Rayan, Pignata, Laura, Bak, Mads, Tommerup, Niels, Lundberg, Elisabeth Syk, Tümer, Zeynep, Lindstrand, Anna
Format: Artigo
Language:Inglês
Published: Public Library of Science 2018
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6258378/
https://ncbi.nlm.nih.gov/pubmed/30419018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007780
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