Article
Diagnostic interpretation of array data using public databases and internet sources.
Human mutation - 1 Jun 2012
de Leeuw Nicole, Dijkhuizen Trijnie, Hehir-Kwa Jayne Y, Carter Nigel P, Feuk Lars, Firth Helen V, Kuhn Robert M, Ledbetter David H, Martin Christa Lese, van Ravenswaaij-Arts Conny M A, Scherer Steven W, Shams Soheil, Van Vooren Steven, Sijmons Rolf, Swertz Morris, Hastings Ros
Abstract excerpt
The range of commercially available array platforms and analysis software packages is expanding and their utility is improving, making reliable detection of copy-number variants (CNVs) relatively straightforward. Reliable interpretation of CNV data, however, is often difficult and requires expert...
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