English

Inferring genotyping error rates from genotyped trios

Quantitative Methods 2011-09-08 v1

Abstract

Genotyping errors are known to influence the power of both family-based and case-control studies in the genetics of complex disease. Estimating genotyping error rate in a given dataset can be complex, but when family information is available error rates can be inferred from the patterns of Mendelian inheritance between parents and offspring. I introduce a novel likelihood-based method for calculating error rates from family data, given known allele frequencies. I apply this to an example dataset, demonstrating a low genotyping error rate in genotyping data from a personal genomics company.

Keywords

Cite

@article{arxiv.1109.1462,
  title  = {Inferring genotyping error rates from genotyped trios},
  author = {Luke Jostins},
  journal= {arXiv preprint arXiv:1109.1462},
  year   = {2011}
}
R2 v1 2026-06-21T19:01:07.861Z