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Sylvia De Brakeleer, Jacques De Grève, Willy Lissens and Erik Teugels Systematic Detection of Pathogenic Alu Element Insertions in NGS-Based Diagnostic Screens: The BRCA1/BRCA2 Example Human Mutation 34

Version of Record online: 11 MAR 2013 | DOI: 10.1002/humu.22297

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Although 10% of the Human genome consists of Alu elements, only a very small fraction is able to actively retrotranspose eventually resulting in gene inactivation. Alu insertions are however very rarely reported in databases with pathogenic gene variations, most probably because they are missed with the classical PCR based screening procedures. Hereby we present the proof of principle of a NGS-based mutation screening procedure allowing the detection of inherited Alu insertions within any predefined sequence.

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