Copy number variations and constitutional chromothripsis (Review)

Both copy number variations (CNVs) and chromothripsis are phenomena that involve complex genomic rearrangements. Chromothripsis results in CNVs and other structural changes. CNVs are frequently observed in the human genome. Studies on CNVs have been increasing exponentially; the Database of Genomic...

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Bibliographic Details
Main Author: Brás, Aldina (author)
Other Authors: Rodrigues, António Sebastião (author), Rueff, José (author)
Format: review
Language:eng
Published: 2020
Subjects:
Congenital disease
Constitutional chromothripsis
Copy number variations
Neuroscience(all)
Biochemistry, Genetics and Molecular Biology(all)
Pharmacology, Toxicology and Pharmaceutics(all)
SDG 3 - Good Health and Well-being
Online Access:http://hdl.handle.net/10362/103209
Country:Portugal
Oai:oai:run.unl.pt:10362/103209

Internet

http://hdl.handle.net/10362/103209

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