TY - JOUR
AU - Holmans, P.
AB - Objective: In affected sib pair studies without genotyped parents the effect of genotyping error is generally to reduce the type I error rate and power of tests for linkage. The effect of genotyping error when parents have been genotyped is unknown. We investigated the type I error rate of the single-point Mean test for studies in which genotypes of both parents are available. Methods: Datasets were simulated assuming no linkage and one of five models for genotyping error. In each dataset, Mendelian-inconsistent families were either excluded or regenotyped, and then the Mean test applied. Results: We found that genotyping errors lead to an inflated type I error rate when inconsistent families are excluded. Depending on the genotyping-error model assumed, regenotyping inconsistent families has one of several effects. It may produce the same type I error rate as if inconsistent families are excluded; it may reduce the type I error, but still leave an anti-conservative test; or it may give a conservative test. Departures of the type I error rate from its nominal level increase with both the genotyping error rate and sample size. Conclusion: We recommend that markers with high error rates either be excluded from the analysis or be regenotyped in all families.
TI - Effect of Genotyping Error on Type-I Error Rate of Affected Sib Pair Studies with Genotyped Parents
JF - Human Heredity
DO - 10.1159/000085939
DA - 2005-01-01
UR - https://www.deepdyve.com/lp/karger/effect-of-genotyping-error-on-type-i-error-rate-of-affected-sib-pair-Oq7SyJPDWN
SP - 157
EP - 164
VL - 59
IS - 3
DP - DeepDyve
ER -