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Using The Estimated Penetrances To Determine The Range Of The Underlying Genetic Model In Case-Control Design, Mark J. Meyer, Neal Jeffries, Gang Zheng

Mark J Meyer

It is well known that the penetrance cannot be estimated using the retrospective case- control samples without making additional assumptions. In the literature the estimation of the penetrance is based on the assumptions that either the disease is rare or the disease prevalence is known. We propose an alternative approach to estimate the penetrance by assuming an underlying genetic model even though it is unknown. With this assumption, we can obtain the point estimates of the penetrances as functions of the genetic model, from which the range of underlying genetic models can be determined. We examine the performance of our …