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Roche logoThis article is part of a special issue on exome sequencing, and has been made free to access thanks to support from Roche Nimblegen.

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Unlocking Mendelian disease using exome sequencing

Christian Gilissen*, Alexander Hoischen, Han G Brunner and Joris A Veltman

Genome Biology 2011, 12:228  doi:10.1186/gb-2011-12-9-228

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