Redundancy In Genotyping Arrays

PLOS ONE(2007)

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摘要
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.
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关键词
genotyping array,rlmm,affymetrix,probe set running title: redundancy in genotyping arrays,physics,biology,engineering,sample size,false positive rate,medicine,chemistry
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