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.
References
Weinberg W (1912) Further contributions to the theory of heredity. Part 4. On methods and sources of error in studies of Mendelian ratios in man. Arch für Rassen und Gesellschaftsbiologie 9:165–174
Weinberg W (1912) Further contributions to the theory of heredity. Part 5. On the inheritance of the predisposition to blood disease with methodological supplements to my sibship method. Arch für Rassen und Gesellschaftsbiologie 9:694–709
Weinberg W (1927) Mathematical foundations of the proband method. Z für Indukt Abstamm and Vererbungslehre 48:179–228
Ginsburg E, Malkin I, Elston RC (2006) Theoretical aspects of pedigree analysis. Tel Aviv, Ramot
Elston RC, Sobel E (1979) Sampling considerations in the gathering and analysis of pedigree data. Am J Hum Genet 31:62–69
Bailey NTJ (1951) The estimation of the frequencies of recessives with incomplete multiple ascertainment. Ann Eugen 16:215–222
Li CC, Mantel N (1968) A simple method for estimating the segregation ratio under complete ascertainment. Am J Hum Genet 20:61–81
Fisher RA (1934) The effect of methods of ascertainment upon the estimation of frequencies. Ann Hum Genet 6:13–25
Haldane JBS (1938) The estimation of the frequencies of recessive conditions in man. Ann Hum Genet 8:255–262
Stene J (1977) Assumptions for different ascertainment models in human genetics. Biometrics 33:523–527
Ewens WJ, Shute NCE (1986) A resolution of the ascertainment sampling scheme. I. Theory. Theor Popul Biol 30:388–412
George VT, Elston RC (1991) An overview of the classical segregation analysis model for independent sibships. Biom J  33:741–753
Ewens WJ (1991) Ascertainment biases and their resolution in biological surveys. In: Rao CR, Chakraborty R (eds) Handbook of statistics. Elsevier North-Holland, Amsterdam
Cannings CC, Thompson EA (1977) Ascertainment in the sequential sampling of pedigrees. Clin Genet 12:208–212
Vieland VJ, Hodge SE (1995) Inherent intractability of the ascertainment problem for pedigree data: a general likelihood framework. Am J Hum Genet 56:33–43
Hodge SE, Vieland VJ (1996) The essence of single ascertainment. Genetics 144:1215–1223
Rabinowitz D (1997) A pseudo-likelihood approach to correcting for ascertainment in family studies. Am J Hum Genet 59:726–730
Vieland VJ, Hodge SE (1996) The problem of ascertainment for linkage analysis. Am J Hum Genet 58:1072–1084
Slager SL, Vieland VJ (1997) Investigating the numerical effects of ascertainment bias in linkage analysis: development of methods and preliminary results. Genet Epidemiol 14:1119–1124
Sun X et al (2012) A variable age of onset segregation model for linkage analysis, with correction for ascertainment, applied to glioma. Cancer Epidemiol Biomarkers Prev 21:2242–2251
S.A.G.E. 6.4 (2016). Statistical Analysis for Genetic Epidemiology:Â https://darwin.cwru.edu
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Ewens, W., Elston, R.C. (2017). Correcting for Ascertainment. In: Elston, R. (eds) Statistical Human Genetics. Methods in Molecular Biology, vol 1666. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7274-6_11
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DOI: https://doi.org/10.1007/978-1-4939-7274-6_11
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