Massively parallel sequencing of ataxia genes after array-based enrichment.

  title={Massively parallel sequencing of ataxia genes after array-based enrichment.},
  author={Alexander Hoischen and Christian Gilissen and Peer Arts and Nienke Wieskamp and Walter A van der Vliet and Sascha Vermeer and Marloes Steehouwer and Petra F de Vries and Rowdy Meijer and Jorge Seiqueros and Nine V. V. A. M. Knoers and Michael F. Buckley and H. Scheffer and Joris A. Veltman},
  journal={Human mutation},
  volume={31 4},
Massively parallel sequencing has tremendous diagnostic potential but requires enriched templates for sequencing. Here we report the validation of an array-based sequence capture method in genetically heterogeneous disorders. The model disorder selected was AR ataxia, using five subjects with known mutations and two unaffected controls. The genomic sequences of seven disease genes, together with two control loci were targeted on a 2-Mb sequence-capture array. After enrichment, the patients' DNA… CONTINUE READING
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