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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Библиографические подробности
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2012
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Article
Online-ссылка: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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