A Likelihood Approach to Calculating Risk Support Interval
S.M. Leal and J. Ott
American Journal of Human Genetics , 54(5), 913--917 (1994 May)
Abstract
Genetic risks are usually computed under the assumption that generic
parameters, such as the recombination fraction, are known without
error. Uncertainty in the estimates of these parameters must translate
into uncertainty regarding the risk. To allow for uncertainties in parameter
values, one may employ Bayesian techniques or, in a maximum-likelihood
framework, construct a support interval (SI) for the risk. Here
we have implemented the latter approach. The SI for the risk is based
on the SIs of parameters involved in the pedigree likelihood. As
an empirical example, the SI for the risk was calculated for probands
who are members oif chronic spinal muscular atrophy kindreds. In order
to evaluate the accuracy of a risk in genetic counseling situations,
we advocate that, in addition to a point estimate, an SI for the
risk should be calculated.
