TY  - JOUR
A1  - Hardenbol, Paul
A1  - Yu, Fuli
A1  - Belmont, John
A1  - MacKenzie, Jennifer
A1  - Bruckner, Carsten
A1  - Brundage, Tiffany
A1  - Boudreau, Andrew
A1  - Chow, Steve
A1  - Eberle, Jim
A1  - Erbilgin, Ayca
A1  - Falkowski, Mat
A1  - Fitzgerald, Ron
A1  - Ghose, Sy
A1  - Iartchouk, Oleg
A1  - Jain, Maneesh
A1  - Karlin-Neumann, George
A1  - Lu, Xiuhua
A1  - Miao, Xin
A1  - Moore, Bridget
A1  - Moorhead, Martin
A1  - Namsaraev, Eugeni
A1  - Pasternak, Shiran
A1  - Prakash, Eunice
A1  - Tran, Karen
A1  - Wang, Zhiyong
A1  - Jones, Hywel B.
A1  - Davis, Ronald W.
A1  - Willis, Thomas D.
A1  - Gibbs, Richard A.
T1  - Highly multiplexed molecular inversion probe genotyping: Over 10,000 targeted SNPs genotyped in a single tube assay
Y1  - 2005/02/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 269 
EP  - 275 
DO  - 10.1101/gr.3185605 
VL  - 15 
IS  - 2 
UR  - http://genome.cshlp.org/content/15/2/269.abstract 
N2  - Large-scale genetic studies are highly dependent on efficient and scalable multiplex SNP assays. In this study, we report the development of Molecular Inversion Probe technology with four-color, single array detection, applied to large-scale genotyping of up to 12,000 SNPs per reaction. While generating 38,429 SNP assays using this technology in a population of 30 trios from the Centre d'Etude Polymorphisme Humain family panel as part of the International HapMap project, we established SNP conversion rates of ∼90% with concordance rates >99.6% and completeness levels >98% for assays multiplexed up to 12,000plex levels. Furthermore, these individual metrics can be “traded off” and, by sacrificing a small fraction of the conversion rate, the accuracy can be increased to very high levels. No loss of performance is seen when scaling from 6,000plex to 12,000plex assays, strongly validating the ability of the technology to suppress cross-reactivity at high multiplex levels. The results of this study demonstrate the suitability of this technology for comprehensive association studies that use targeted SNPs in indirect linkage disequilibrium studies or that directly screen for causative mutations. 
ER  -