Pedigree-based relationship inference from complex DNA mixtures

Int J Legal Med. 2017 May;131(3):629-641. doi: 10.1007/s00414-016-1526-x. Epub 2017 Jan 19.

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.

Keywords: DNA mixtures; Drop-in; Dropout; Kinship; Likelihood ratio; Mutations; NGS; Non-invasive prenatal paternity testing.

MeSH terms

  • DNA / analysis*
  • DNA Fingerprinting / methods*
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Likelihood Functions
  • Male
  • Models, Genetic
  • Paternity*
  • Pedigree*
  • Software

Substances

  • DNA