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haploMAGIC:即使存在基因分型错误,也能在多亲本群体中准确进行相位和重组检测。

haploMAGIC: accurate phasing and detection of recombination in multiparental populations despite genotyping errors.

机构信息

Department of Agrobioinformatics, IFZ Research Center for Biosystems, Land Use and Nutrition, Justus Liebig University, Heinrich Buff Ring 26, 35392 Giessen, Germany.

Department of Plant Breeding, IFZ Research Center for Biosystems, Land Use and Nutrition, Justus Liebig University, Heinrich Buff Ring 26, 35392 Giessen, Germany.

出版信息

G3 (Bethesda). 2024 Aug 7;14(8). doi: 10.1093/g3journal/jkae109.

Abstract

Recombination is a key mechanism in breeding for promoting genetic variability. Multiparental populations (MPPs) constitute an excellent platform for precise genotype phasing, identification of genome-wide crossovers (COs), estimation of recombination frequencies, and construction of recombination maps. Here, we introduce haploMAGIC, a pipeline to detect COs in MPPs with single-nucleotide polymorphism (SNP) data by exploiting the pedigree relationships for accurate genotype phasing and inference of grandparental haplotypes. haploMAGIC applies filtering to prevent false-positive COs due to genotyping errors (GEs), a common problem in high-throughput SNP analysis of complex plant genomes. Hence, it discards haploblocks not reaching a specified minimum number of informative alleles. A performance analysis using populations simulated with AlphaSimR revealed that haploMAGIC improves upon existing methods of CO detection in terms of recall and precision, most notably when GE rates are high. Furthermore, we constructed recombination maps using haploMAGIC with high-resolution genotype data from 2 large multiparental populations of winter rapeseed (Brassica napus). The results demonstrate the applicability of the pipeline in real-world scenarios and showed good correlations in recombination frequency compared with alternative software. Therefore, we propose haploMAGIC as an accurate tool at CO detection with MPPs that shows robustness against GEs.

摘要

重组是促进遗传变异的育种关键机制。多亲本群体 (MPP) 是精确基因型定相、鉴定全基因组交叉 (CO)、估计重组频率以及构建重组图谱的绝佳平台。在这里,我们介绍了 haploMAGIC,这是一种通过利用系谱关系进行精确基因型定相和推断祖辈单倍型来检测 MPP 中 SNP 数据 CO 的流水线。haploMAGIC 应用过滤来防止由于高通量 SNP 分析中常见的复杂植物基因组的基因型错误 (GE) 而导致的假阳性 CO。因此,它丢弃了未达到指定最小信息量等位基因数的单倍型块。使用 AlphaSimR 模拟的群体进行的性能分析表明,haploMAGIC 在召回率和精确度方面优于现有的 CO 检测方法,尤其是在 GE 率较高时。此外,我们使用冬油菜 (Brassica napus) 两个大型多亲本群体的高分辨率基因型数据使用 haploMAGIC 构建了重组图谱。结果表明,该流水线在实际场景中具有适用性,与替代软件相比,在重组频率方面具有良好的相关性。因此,我们提出 haploMAGIC 作为一种在 MPP 中具有 CO 检测功能的准确工具,它对 GE 具有稳健性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60d8/11304941/2eac2d892d0e/jkae109f1.jpg

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