Abstract
It has been shown that the classical binomial form of ascertainment, assuming a constant probability pi that any affected individual may become a proband for his pedigree, cannot describe a rather wide range of ascertainment procedures that might arise in practice. Some more general heuristic ascertainment formulas might then be preferred, and in this paper we consider the probabilistic basis for these formulas. We retain the binomial assumption of the classical scheme but allow the ascertainment probability to depend on the number of potential probands per pedigree. This probability can be expressed by an increasing or a decreasing function of that number. Various illustrations are given and situations where the "cooperative" binomial scheme should be valuable are discussed.
Full text
PDF




Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- 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]
- Dawson D. V., Elston R. C. A bivariate problem in human genetics: ascertainment of families through a correlated trait. Am J Med Genet. 1984 Jul;18(3):435–448. doi: 10.1002/ajmg.1320180313. [DOI] [PubMed] [Google Scholar]
- Elston R. C., Sobel E. Sampling considerations in the gathering and analysis of pedigree data. Am J Hum Genet. 1979 Jan;31(1):62–69. [PMC free article] [PubMed] [Google Scholar]
- Ewens W. J., Green R. M. A resolution of the ascertainment sampling problem: IV. Continuous phenotypes. Genet Epidemiol. 1988;5(6):433–444. doi: 10.1002/gepi.1370050607. [DOI] [PubMed] [Google Scholar]
- Ewens W. J., Shute N. C. The limits of ascertainment. Ann Hum Genet. 1986 Oct;50(Pt 4):399–402. doi: 10.1111/j.1469-1809.1986.tb01760.x. [DOI] [PubMed] [Google Scholar]
- MORTON N. E. Genetic tests under incomplete ascertainment. Am J Hum Genet. 1959 Mar;11(1):1–16. [PMC free article] [PubMed] [Google Scholar]
- Shute N. C., Ewens W. J. A resolution of the ascertainment sampling problem. II. Generalizations and numerical results. Am J Hum Genet. 1988 Oct;43(4):374–386. [PMC free article] [PubMed] [Google Scholar]
- Shute N. C. The ascertainment sampling problem and estimation of genetic parameters when parental haplotypes are known. Am J Med Genet. 1988 Oct;31(2):281–290. doi: 10.1002/ajmg.1320310205. [DOI] [PubMed] [Google Scholar]
- Williams J. S., Stene J. Assumptions for different ascertainment models in human genetics. Biometrics. 1977 Sep;33(3):523–527. [PubMed] [Google Scholar]
