Part of the work described here was carried out while the authors were visiting the Department of Medical Biophysics and Computing. University of Utah, under National Institutes of Health (USA) Research Grant 16753 awarded by the National Cancer Institute (USA). Public Health Service/DHEW.
Ascertainment in the sequential sampling of pedigrees
Article first published online: 23 APR 2008
Volume 12, Issue 4, pages 208–212, October 1977
How to Cite
Cannings, C. and Thompson, E. A. (1977), Ascertainment in the sequential sampling of pedigrees. Clinical Genetics, 12: 208–212. doi: 10.1111/j.1399-0004.1977.tb00928.x
- Issue published online: 23 APR 2008
- Article first published online: 23 APR 2008
- Received 20 January, revised 6 May, Accepted for publication 25 May 1977
One aim in the analysis of pedigree data may be to infer the mode of inheritance of a characteristic. If only “interesting” pedigrees are analysed, the ascertainment bias may lead to some modes of inheritance being unintentionally preferred. Also, it is clearly most efficient in attempting to make such inferences, if a decision on whether to continue sampling a pedigree is made conditional on the types of individuals who have been observed; an a priori decision to examine 500 members of a pedigree may lead to much wasted effort, since the pedigree may prove to be largely uninformative. The present paper shows that provided all observed families are included in the analysis, even those which appeared “uninteresting” or “sporadic” and were not sampled further, and provided a decision to continue sampling is made conditional on types observed up to that point, the correct likelihood for the mode of inheritance may be easily computed. This opens the way for a more detailed study of the wider problem of optimal sampling rules on pedigrees.