Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays

被引:304
作者
Matsuzaki, H [1 ]
Dong, SL [1 ]
Loi, H [1 ]
Di, XJ [1 ]
Liu, GY [1 ]
Hubbell, E [1 ]
Law, J [1 ]
Berntsen, T [1 ]
Chadha, M [1 ]
Hui, H [1 ]
Yang, GR [1 ]
Kennedy, GC [1 ]
Webster, TA [1 ]
Cawley, S [1 ]
Walsh, PS [1 ]
Jones, KW [1 ]
Fodor, SPA [1 ]
Mei, R [1 ]
机构
[1] Affymetrix Inc, Santa Clara, CA 95051 USA
关键词
D O I
10.1038/nmeth718
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
We present a genotyping method for simultaneously scoring 116,204 SNPs using oligonucleotide arrays. At call rates >99%, reproducibility is >99.97% and accuracy, as measured by inheritance in trios and concordance with the HapMap Project, is >99.7%. Average intermarker distance is 23.6 kb, and 92% of the genome is within 100 kb of a SNP marker. Average heterozygosity is 0.30, with 105,511 SNPs having minor allele frequencies >5%.
引用
收藏
页码:109 / 111
页数:3
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