Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America.
PLoS One. 2007 Mar 14;2(3):e287. doi: 10.1371/journal.pone.0000287.
Despite their unprecedented density, current SNP genotyping arrays contain large amounts of redundancy, with up to 40 oligonucleotide features used to query each SNP. By using publicly available reference genotype data from the International HapMap, we show that 93.6% sensitivity at <5% false positive rate can be obtained with only four probes per SNP, compared with 98.3% with the full data set. Removal of this redundancy will allow for more comprehensive whole-genome association studies with increased SNP density and larger sample sizes.
尽管目前的 SNP 基因分型阵列具有前所未有的密度,但它们包含大量的冗余信息,每个 SNP 最多使用 40 个寡核苷酸特征进行查询。通过使用国际人类基因组单体型图计划提供的公开参考基因型数据,我们发现,与使用完整数据集相比,每个 SNP 使用仅四个探针即可获得 93.6%的灵敏度(假阳性率<5%)。去除这种冗余信息将允许使用更高密度的 SNP 和更大的样本量进行更全面的全基因组关联研究。