Ewens Warren, Elston Robert C
Department of Biology, University of Pennsylvania, 3601 Locust Walk, Philadelphia, PA, 19104, USA.
Case Western Reserve University, Cleveland, OH, USA.
Methods Mol Biol. 2017;1666:211-232. doi: 10.1007/978-1-4939-7274-6_11.
Data used to study human genetics are often not obtained by simple random sampling, which is assumed by many statistical methods, especially those that are based on likelihood for making inferences. There is a well-developed theory to correct likelihoods based on sibship data whether or not the exact mode of ascertainment is known. In the case of larger pedigrees, however, the problem is much more difficult unless they are recruited into the sample by single ascertainment. There is no one piece of software that analyzes ascertainment in general, so most of this chapter is devoted to theory. A general method by which one general genetic analysis software package corrects pedigree data for ascertainment is briefly described.
用于研究人类遗传学的数据通常并非通过简单随机抽样获得，而许多统计方法，尤其是那些基于似然性进行推断的方法，都假定数据是通过简单随机抽样获得的。无论确切的抽样模式是否已知，都有一套完善的理论来校正基于同胞关系数据的似然性。然而，对于更大的家系来说，除非通过单一抽样将它们纳入样本，否则问题要困难得多。目前还没有一款能全面分析抽样问题的软件，因此本章大部分内容都致力于理论探讨。简要描述了一种通用遗传分析软件包校正家系数据抽样问题的一般方法。
