Segregation Analysis Software


Segregation analysis software is used to test modes of inheritance and to provide parameter estimates for genetic models.

Keywords: mode of inheritance; Elston–Stewart algorithm; likelihood; oligogenic model


Bonney GE (1984) On the statistical determination of major gene mechanisms in continuous human traits: regressive models. American Journal of Medical Genetics 18: 731–749.

Bonney GE (1986) Regressive logistic models for familial disease and other binary traits. Biometrics 42: 611–625.

Cannings C, Thompson EA and Skolnick MA (1978) Probability functions on complex pedigrees. Advances in Applied Probability 10: 26–61.

Elston RC (1981) Segregation analysis. In: Harris H and Hirschhorn K (eds.) Advances in Human Genetics, vol.II, pp. 63–120. New York, NY: Plenum Publishing.

Elston RC and Stewart J (1971) A general model for the analysis of pedigree data. Human Heredity 21: 523–542.

Hasstedt SJ (1991) A variance components/major locus likelihood approximation on quantitative data. Genetic Epidemiology 8: 113–125.

Lander ES and Green P (1987) construction of multilocus genetic maps in humans, Proceedings of the National Academy of Sciences of the United States of America 84: 2363–2367.

Ott J (1999) Analysis of Human Genetic Linkage, 3rd edn. Baltimore, MD: Johns Hopkins University Press.

Further Reading

Morton NE and McLean CJ (1974) Analysis of family resemblence III. Complex segregation analysis of quantitative traits. American Journal of Human Genetics 26: 489–503.

Web Links

Laboratory of Statistical Genetics at Rockefeller University. Web resources of genetic linkage analysis

HGAR: the Human Genetic Analysis Resource (SAGE home page)

PAP, revision 5

Mendel 4.1.1

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Stricker, Christian, and Fernando, Rohan L(Jan 2006) Segregation Analysis Software. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005424]