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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1988 Jun;42(6):889–897.

Segregation analysis with uncertain ascertainment: application to Fanconi anemia.

A Rogatko 1, A D Auerbach 1
PMCID: PMC1715212  PMID: 3369448

Abstract

A Bayesian solution for making inferences about segregation parameters with no information about the ascertainment is presented. Inferences about the segregation probability and the probability of being sporadic are made through the posterior marginal distribution of these parameters after integrating out the ascertainment probability, the nuisance parameter. The method was tested with real and simulated data and performed well. Original Fanconi anemia data, for which no information about the ascertainment was available, were then analyzed, with results that confirmed a monogenic autosomal recessive mode of inheritance.

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Selected References

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