title: Bias correction for segregation ratio estimation in human genetics.
abstract: Segregation ratio estimation has long been important in human genetics. A simple truncated binomial model is considered that assumes complete ascertainment and a deterministic genotype-phenotype relationship. A simple but intuitively appealing estimator of the segregation ratio, previously proposed, is shown to have a negative bias. It is also shown that the bias of this estimator can be largely reduced via a randomization device, resulting in a new estimator that has the same large-sample behavior but with a negligible bias (decaying at a geometric rate). Numerical results are given to show the small-sample performance of this new estimator. An extension to incomplete ascertainment is also considered.
authors.affiliation: Institute of Statistical Science, Academia Sinica, Taipei, Taiwan, R.O.C. yao@stat.sinica.edu.tw
authors.forename: Y C
authors.initials: YC
authors.lastname: Yao
authors.forename: J J
authors.initials: JJ
authors.lastname: Tai
mesh_terms: D001699:Biometry / Q000379:methods; D005190:Family; D005826:Genetics, Medical; D005838:Genotype; D006801:Humans; D008957:Models, Genetic; D015233:Models, Statistical; D010641:Phenotype; D011897:Random Allocation