Correcting for Ascertainment

Abstract

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.

Keywords: Catchment area; Complete ascertainment; Multiple ascertainment; Proband; Proband sampling frame; Proband-dependent sampling; Pseudo-likelihood; Sequential sampling; Single ascertainment.