Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1982 Nov;34(6):853–865.

Aspects of parameter estimation in ascertainment sampling schemes.

W J Ewens
PMCID: PMC1685688  PMID: 7180844

Abstract

It has recently been suggested that ascertainment sampling estimation procedures commonly used are not fully efficient in that the number of unobserved families is an unknown parameter that should be estimated (contrary to common practice) along with the genetic parameters for fully efficient estimation. It has also been suggested that the frequency distribution of family size contains unknown parameters that should similarly be estimated with the genetic parameters. These two suggestions are considered in this paper. It is shown by means of an equivalence theorem that in both cases the estimates and their variances obtained by adopting the suggested procedure are identical with those found by ignoring the unobserved families and by ignoring the family-size distribution. This demonstration leads to a formal justification of further procedures, in particular: (1) use of "method-of-moments" estimators, (2) ignoring the ascertainment scheme in some cases when estimating parameters, and (3) forming estimates of parameters when various parts of the data are obtained by different ascertainment schemes.

Full text

PDF
853

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BAILEY N. T. J. The estimation of the frequencies of recessives with incomplete multiple selection. Ann Eugen. 1951 Dec;16(3):215–222. doi: 10.1111/j.1469-1809.1951.tb02473.x. [DOI] [PubMed] [Google Scholar]
  2. Berger A., Gold R. Z. On estimating recessive frequencies from truncated samples. Biometrics. 1967 Jun;23(2):356–360. [PubMed] [Google Scholar]
  3. Elston R. C. Segregation analysis. Adv Hum Genet. 1981;11:63-120, 372-3. doi: 10.1007/978-1-4615-8303-5_2. [DOI] [PubMed] [Google Scholar]
  4. Gladstien K., Kidd K. K. An easy-to-use maximum-likelihood method of estimating the ascertainment probability. Am J Hum Genet. 1981 Sep;33(5):785–801. [PMC free article] [PubMed] [Google Scholar]
  5. Morton N. E., MacLean C. J. Analysis of family resemblance. 3. Complex segregation of quantitative traits. Am J Hum Genet. 1974 Jul;26(4):489–503. [PMC free article] [PubMed] [Google Scholar]
  6. Thompson E. A., Cannings C. Sampling schemes and ascertainment. Prog Clin Biol Res. 1979;32:363–382. [PubMed] [Google Scholar]
  7. Williams J. S., Stene J. Assumptions for different ascertainment models in human genetics. Biometrics. 1977 Sep;33(3):523–527. [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES