Discovery of variants unmasked by hemizygous deletions

Array-based genome-wide segmental aneuploidy screening detects both de novo and inherited copy number variations (CNVs). In sporadic patients de novo CNVs are interpreted as potentially pathogenic. However, a deletion, transmitted from a healthy parent, may be pathogenic if it overlaps with a mutate...

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Detalhes bibliográficos
Main Authors: Hochstenbach, Ron, Poot, Martin, Nijman, Isaac J, Renkens, Ivo, Duran, Karen J, van'T Slot, Ruben, van Binsbergen, Ellen, van der Zwaag, Bert, Vogel, Maartje J, Terhal, Paulien A, Ploos van Amstel, Hans Kristian, Kloosterman, Wigard P, Cuppen, Edwin
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376260/
https://ncbi.nlm.nih.gov/pubmed/22258528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.263
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