Pedigree-based relationship inference from complex DNA mixtures

Abstract

We present a general method for analysing DNA mixtures involving relatives that accounts for dropout and drop-in, mutations, silent alleles and population substructure. Whether the aim is to identify the contributors to a mixture who may be related, or to determine the relationship between individuals based on a DNA mixture, both types of problems can be handled by the method and software presented here. We focus on the latter scenario, motivated by non-invasive prenatal paternity testing where the profile of the child is available only in the form of a mixture with the mother’s profile. Relationships are represented by pedigrees and can include kinship between more than two individuals. The software is freely available as a graphical user interface in the R package relMix.

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Acknowledgments

GD has received funding support from the European Union Seventh Framework Programme, EUROFORGEN-NoE (FP7/2007-2013) under grant agreement no. 285487. The authors would like to thank Thore Egeland for helpful comments and two anonymous reviewers who helped improve the paper.

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Correspondence to Guro Dørum.

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Dørum, G., Kaur, N. & Gysi, M. Pedigree-based relationship inference from complex DNA mixtures. Int J Legal Med 131, 629–641 (2017). https://doi.org/10.1007/s00414-016-1526-x

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Keywords

  • DNA mixtures
  • Kinship
  • Likelihood ratio
  • Dropout
  • Drop-in
  • Mutations
  • Non-invasive prenatal paternity testing
  • NGS