在一对寡核苷酸阵列上对超过10万个单核苷酸多态性进行基因分型。

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

作者信息

Matsuzaki Hajime, Dong Shoulian, Loi Halina, Di Xiaojun, Liu Guoying, Hubbell Earl, Law Jane, Berntsen Tam, Chadha Monica, Hui Henry, Yang Geoffrey, Kennedy Giulia C, Webster Teresa A, Cawley Simon, Walsh P Sean, Jones Keith W, Fodor Stephen P A, Mei Rui

机构信息

Affymetrix, Inc., 3380 Central Expressway, Santa Clara, California 95051, USA.

出版信息

Nat Methods. 2004 Nov;1(2):109-11. doi: 10.1038/nmeth718.

DOI:10.1038/nmeth718

PMID:15782172

Abstract

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%.

摘要

我们提出了一种使用寡核苷酸阵列同时对116,204个单核苷酸多态性（SNP）进行基因分型的方法。在检出率>99%的情况下，重复性>99.97%，通过三联体遗传和与HapMap计划的一致性衡量的准确性>99.7%。标记间平均距离为23.6 kb，92%的基因组位于SNP标记的100 kb范围内。平均杂合度为0.30，105,511个SNP的次要等位基因频率>5%。