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

Genomics. 2007 Sep;90(3):291-6. doi: 10.1016/j.ygeno.2007.05.011. Epub 2007 Jun 27.

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.

MeSH terms

  • Algorithms
  • Australia
  • Family Health
  • Genetic Techniques
  • Genetic Testing
  • Genome
  • Genome, Human
  • Genotype*
  • Humans
  • Models, Genetic
  • Models, Statistical
  • Oligonucleotide Array Sequence Analysis / methods*
  • Polymorphism, Single Nucleotide*
  • Probability
  • Reproducibility of Results