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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Detalhes bibliográficos
Autor principal: Brás, Aldina (author)
Outros Autores: Rodrigues, António Sebastião (author), Rueff, José (author)
Formato: review
Idioma:eng
Publicado em: 2020
Assuntos:
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
Texto completo:http://hdl.handle.net/10362/103209
País:Portugal
Oai:oai:run.unl.pt:10362/103209

Texto Completo

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

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