Segregation analysis with uncertain ascertainment: application to Fanconi anemia

Am J Hum Genet. 1988 Jun;42(6):889-97.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Anemia, Aplastic / genetics*
  • Bayes Theorem
  • Cystic Fibrosis / genetics
  • Fanconi Anemia / genetics*
  • Genes, Recessive
  • Humans
  • Models, Genetic*