haploMAGIC: accurate phasing and detection of recombination in multiparental populations despite genotyping errors.
Jose A Montero-TenaNayyer Abdollahi SisiTobias KoxAmine AbbadiRod J SnowdonAgnieszka A GoliczPublished in: G3 (Bethesda, Md.) (2024)
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.
Keyphrases
- genome wide
- dna repair
- high throughput
- dna damage
- high resolution
- genetic diversity
- dna methylation
- single cell
- loop mediated isothermal amplification
- copy number
- real time pcr
- climate change
- patient safety
- electronic health record
- gene expression
- big data
- emergency department
- machine learning
- mass spectrometry
- wastewater treatment
- high speed