A resolution of the ascertainment sampling problem. III. Pedigrees

Am J Hum Genet. 1988 Oct;43(4):387-95.


When nuclear families are sampled by an ascertainment procedure whose properties are not known, biased estimates of genetic parameters will arise if an incorrect specification of the ascertainment procedure is made. Elsewhere we have put forward a resolution of this problem by introducing an ascertainment-assumption-free (AAF) method, for nuclear family data, which gives asymptotically unbiased estimators no matter what the true nature of the ascertainment process. In the present paper we extend this method to cover pedigree data. Problems that arise with pedigrees but not with families--for example, the question of which families in a pedigree are "ascertainable"--are also considered. Comparisons of numerical results for pedigrees and nuclear families are also made.

MeSH terms

  • Data Interpretation, Statistical*
  • Humans
  • Mathematics
  • Models, Genetic*
  • Pedigree*
  • Probability
  • Sampling Studies*