Bioinformatics Commons^™

Assessing The Impact Of Non-Differential Genotyping Errors On Rare Variant Tests Of Association, Scott Powers, Shyam Gopalakrishnan, Nathan L. Tintle

Faculty Work Comprehensive List

Background/Aims: We aim to quantify the effect of non-differential genotyping errors on the power of rare variant tests and identify those situations when genotyping errors are most harmful. Methods: We simulated genotype and phenotype data for a range of sample sizes, minor allele frequencies, disease relative risks and numbers of rare variants. Genotype errors were then simulated using five different error models covering a wide range of error rates. Results: Even at very low error rates, misclassifying a common homozygote as a heterozygote translates into a substantial loss of power, a result that is exacerbated even further as the minor …