TY - JOUR A1 - Matsuzaki, Hajime A1 - Loi, Halina A1 - Dong, Shoulian A1 - Tsai, Ya-Yu A1 - Fang, Joy A1 - Law, Jane A1 - Di, Xiaojun A1 - Liu, Wei-Min A1 - Yang, Geoffrey A1 - Liu, Guoying A1 - Huang, Jing A1 - Kennedy, Giulia C. A1 - Ryder, Thomas B. A1 - Marcus, Gregory A. A1 - Walsh, P. Sean A1 - Shriver, Mark D. A1 - Puck, Jennifer M. A1 - Jones, Keith W. A1 - Mei, Rui T1 - Parallel Genotyping of Over 10,000 SNPs Using a One-Primer Assay on a High-Density Oligonucleotide Array Y1 - 2004/03/01 JF - Genome Research JO - Genome Research SP - 414 EP - 425 DO - 10.1101/gr.2014904 VL - 14 IS - 3 UR - http://genome.cshlp.org/content/14/3/414.abstract N2 - The analysis of single nucleotide polymorphisms (SNPs) is increasingly utilizedto investigate the genetic causes of complex human diseases. Here we present a high-throughput genotyping platform that uses a one-primer assay to genotype over 10,000 SNPs per individual on a single oligonucleotide array. This approach uses restriction digestion to fractionate the genome, followed by amplification of a specific fractionated subset of the genome. The resulting reduction in genome complexity enables allele-specific hybridization to the array. The selection of SNPs was primarily determined by computer-predicted lengths of restriction fragments containing the SNPs, andwas further driven by strict empirical measurements of accuracy, reproducibility, andaverage call rate, which we estimate to be >9.5%, >99.9%, and>95%, respectively. With average heterozygosity of 0.38 andgenome scan resolution of 0.31 cM, the SNP array is a viable alternative to panels of microsatellites (STRs). As a demonstration of the utility of the genotyping platform in whole-genome scans, we have replicated and refined a linkage region on chromosome 2p for chronic mucocutaneous candidiasis and thyroid disease, previously identified using a panel of microsatellite (STR) markers. ER -