Parental expression is overvalued in the interpretation of rare inherited variants
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201464.pdf
Reference14 articles.
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3. Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST : American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 2011; 13: 680–685.
4. Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G et al: Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics. Eur J Hum Genet 2012; 20: 161–165.
5. Lee C, Scherer SW : The clinical context of copy number variation in the human genome. Expert Rev Mol Med 2010; 12: e8.
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