Genomewide SNP assay reveals mutations underlying Parkinson disease.


Technologies that allow genotyping of more than 100,000 polymorphisms in a single assay enable the execution of genomewide SNP (GWSNP) association studies to identify common genetic variants underlying traits. Less appreciated is the ability of GWSNP assays to map and directly identify rare mutations that cause disease. Here we show the use of this approach… (More)


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@article{SimnSnchez2008GenomewideSA, title={Genomewide SNP assay reveals mutations underlying Parkinson disease.}, author={Javier Sim{\'o}n-S{\'a}nchez and Sonja W. Scholz and Maria del Mar Matar{\'i}n and Hon Chung Fung and Dena G. Hernandez and Jesse Raphael Gibbs and Angela F. Britton and John Hardy and Andrew Singleton}, journal={Human mutation}, year={2008}, volume={29 2}, pages={315-22} }