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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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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2012
Fag:
Article
Online adgang: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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