A generic hidden Markov model for multiparent populations

G3 (Bethesda). 2022 Feb 4;12(2):jkab396. doi: 10.1093/g3journal/jkab396.


A common step in the analysis of multiparent populations (MPPs) is genotype reconstruction: identifying the founder origin of haplotypes from dense marker data. This process often makes use of a probability model for the pattern of founder alleles along chromosomes, including the relative frequency of founder alleles and the probability of exchanges among them, which depend on a model for meiotic recombination and on the mating design for the population. While the precise experimental design used to generate the population may be used to derive a precise characterization of the model for exchanges among founder alleles, this can be tedious, particularly given the great variety of experimental designs that have been proposed. We describe an approximate model that can be applied for a variety of MPPs. We have implemented the approach in the R/qtl2 software, and we illustrate its use in applications to publicly available data on Diversity Outbred and Collaborative Cross mice.

Keywords: Collaborative Cross; Diversity Outbred mice; HMM; MPP; Multiparent Advanced Generation Inter-Cross (MAGIC); QTL; heterogeneous stock; multiparental populations; quantitative trait loci.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Chromosome Mapping
  • Genotype
  • Mice
  • Models, Genetic*
  • Quantitative Trait Loci*
  • Software