Article
Massively parallel sequencing of ataxia genes after array-based enrichment.
Human mutation - 1 Apr 2010
Hoischen Alexander, Gilissen Christian, Arts Peer, Wieskamp Nienke, van der Vliet Walter, Vermeer Sascha, Steehouwer Marloes, de Vries Petra, Meijer Rowdy, Seiqueros Jorge, Knoers Nine V A M, Buckley Michael F, Scheffer Hans, Veltman Joris A
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.