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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Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: Nature Publishing Group 2012
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Article
Accès en ligne: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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