系谱数据收集与分析中的抽样考量
Sampling considerations in the gathering and analysis of pedigree data.
作者信息
Elston R C, Sobel E
出版信息
Am J Hum Genet. 1979 Jan;31(1):62-9.
Abstract
A general expression for the likelihood of a set of phenotypic observations on a randomly sampled pedigree, suitable for a wide variety of genetic models, has been previously modified to allow for independent ascertainments via probands. In this paper, further allowance is made for the fact that a pedigree usually contains some individuals who, whatever their phentoype, could never be probands, and we derive the limiting form of the likelihood appropriate for single ascertainment. The case when the sampling frame is ill-defined is discussed, and suggestions made for how to proceed in such a case.
摘要
先前已对适用于多种遗传模型的随机抽样家系中一组表型观察值的似然性通用表达式进行了修改，以允许通过先证者进行独立确定。在本文中，进一步考虑了这样一个事实，即一个家系通常包含一些个体，无论其表型如何，都永远不可能成为先证者，并且我们推导出了适用于单样本确定的似然性极限形式。讨论了抽样框架不明确的情况，并就如何处理这种情况提出了建议。
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