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Stationary mutation models

Journal article
Authors Ivar Simonsson
Petter Mostad
Published in Forensic Science International-Genetics
Volume 23
Pages 217-225
ISSN 1872-4973
Publication year 2016
Published at Department of Mathematical Sciences, Mathematical Statistics
Pages 217-225
Language en
Keywords Familias, DNA relationship inference, STR markers, Mutation matrices, Genetics & Heredity, Legal Medicine
Subject categories Mathematics


Probability calculations for relationship inference based on DNA tests are often performed with computer packages such as Familias. When mutations are assumed to be a possibility, one may notice a curious and problematic effect of including untested parents: results tend to change slightly. In this paper, we trace this effect back to fundamental model-formulating issues which can only be resolved by using stationary mutation models. We present several methods for obtaining such stationary mutation matrices from original mutation matrices, and evaluate essential properties of these methods. Our conclusion is that typically, stationary mutation models can be obtained, but for many types of markers, it may be impossible to combine specific biologically reasonable requirements for a mutation matrix with the requirement of stationarity.

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