Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI 53706, USA.
G3 (Bethesda). 2022 Feb 4;12(2). 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.
多亲群体(MPP)分析中的一个常见步骤是基因型重建:从密集标记数据中确定单倍型的创始人起源。这个过程通常利用染色体上创始人等位基因模式的概率模型,包括创始人等位基因的相对频率和它们之间交换的概率,这取决于减数分裂重组的模型和群体的交配设计。虽然用于生成群体的精确实验设计可用于推导出创始人等位基因之间交换模型的精确描述,但这可能很繁琐,尤其是考虑到已经提出了各种各样的实验设计。我们描述了一种可应用于多种 MPP 的近似模型。我们已经在 R/qtl2 软件中实现了该方法,并通过对多样性杂交和合作杂交小鼠的公开数据的应用来说明其使用。