Cannings C, Thompson E A
Clin Genet. 1977 Oct;12(4):208-12. doi: 10.1111/j.1399-0004.1977.tb00928.x.
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 samplings rules on pedigrees.
系谱数据分析的一个目的可能是推断某一特征的遗传模式。如果只分析“有趣的”系谱，确定偏倚可能会导致某些遗传模式被无意地优先选择。此外，如果根据已观察到的个体类型来决定是否继续对系谱进行抽样，那么在进行此类推断时显然效率最高；事先决定检查一个系谱的500名成员可能会导致大量的精力浪费，因为该系谱可能被证明基本上没有信息价值。本文表明，只要将所有观察到的家系纳入分析，即使是那些看起来“无趣”或“散发”且未进一步抽样的家系，并且只要根据到该点为止观察到的类型来决定是否继续抽样，那么遗传模式的正确似然性就可以很容易地计算出来。这为更详细地研究系谱上最优抽样规则这一更广泛的问题开辟了道路。
