Estimating genotyping error rates from Mendelian errors in SNP array genotypes and their impact on inference

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Abstract

A simple method of inferring the genotyping error rate of SNP arrays and similar high-throughput genotyping methods from Mendelian errors is described. Application to genotypes from small families using the Affymetrix GeneChip Human Mapping 50 k Array indicates an error rate of about 0.1%, and this rate can be reduced by increasing the quality criterion for calls, though at the cost of a reduced genotype call rate, which limits the benefit available. Simulated data are used to show that the number of SNPs on this array is sufficient for such a low error rate to have little impact on identical by descent-based inference for disease linkage in sib-pair studies. Crown Copyright © 2007.

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Saunders, I. W., Brohede, J., & Hannan, G. N. (2007). Estimating genotyping error rates from Mendelian errors in SNP array genotypes and their impact on inference. Genomics, 90(3), 291–296. https://doi.org/10.1016/j.ygeno.2007.05.011

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