Inferring genotyping error rates from genotyped trios

Biology – Quantitative Biology – Quantitative Methods

Scientific paper

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Scientific paper

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.

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