Abstract

Simulation studies play an important role in the study of probabilistic genotyping systems, as a low cost and fast alternative to in vitro studies. With ongoing calls for further study of the behaviour of probabilistic genotyping systems, there is a continuous need for such studies. In most cases, researchers use simplified models, for example ignoring complexities such as peak height variability due to lack of availability of advanced tools. We fill this void and describe a tool that can simulate DNA profiles in silico for the validation and investigation of probabilistic genotyping software. Contributor genotypes are simulated by randomly sampling alleles from selected allele frequencies. Some or all contributors may be related to a pedigree and the genotypes of non-founders are obtained by random gene dropping. The number of contributors per profile, and ranges for parameters such as DNA template amount and degradation parameters can be configured. Peak height variability is modelled using a lognormal distribution or a gamma distribution. Profile behaviour of simulated profiles is shown to be broadly similar to laboratory generated profiles though the latter shows more variation. Simulation studies do not remove the need for experimental data. The tool has been made available as an R-package named simDNAmixtures.

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