Tests for segregation distortion in higher ploidy F1 populations

F1 populations are widely used in genetic mapping studies in agriculture, where known pedigrees enable rigorous quality control measures such as segregation distortion testing. However, conventional tests for segregation distortion are inadequate for polyploids, as they fail to account for double reduction, preferential pairing, and genotype uncertainty, leading to inflated type I error rates. Prior work developed a statistical framework to address these issues in tetraploids. Here, we extend these methods to higher even ploidy levels and introduce additional strategies to mitigate the influence of outliers. Through extensive simulations, we demonstrate that our tests maintain appropriate type I error control while retaining power to detect true segregation distortion. We further validate our approach using empirical data from a hexaploid mapping population. Our methods are implemented in the segtest R package, available on the Comprehensive R Archive Network (https://doi.org/10.32614/CRAN.package.segtest).

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Publication Details

Journal
G3 Genes Genomes Genetics
Published
2025-09-15
DOI
https://doi.org/10.1093/g3journal/jkaf212
Primary Topic
Genetic Mapping and Diversity in Plants and Animals
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article
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article

Tests for segregation distortion in higher ploidy F1 populations

Guilherme da Silva Pereira, Antônio Augusto Franco Garcia, Guilherme Bovi Ambrosano, David Gerard
G3 Genes Genomes Genetics
Genetic Mapping and Diversity in Plants and Animals
article

Tests for segregation distortion in higher ploidy F1 populations

Guilherme da Silva Pereira, Antônio Augusto Franco Garcia, Guilherme Bovi Ambrosano, David Gerard
article en

Abstract

F1 populations are widely used in genetic mapping studies in agriculture, where known pedigrees enable rigorous quality control measures such as segregation distortion testing. However, conventional tests for segregation distortion are inadequate for polyploids, as they fail to account for double reduction, preferential pairing, and genotype uncertainty, leading to inflated type I error rates. Prior work developed a statistical framework to address these issues in tetraploids. Here, we extend these methods to higher even ploidy levels and introduce additional strategies to mitigate the influence of outliers. Through extensive simulations, we demonstrate that our tests maintain appropriate type I error control while retaining power to detect true segregation distortion. We further validate our approach using empirical data from a hexaploid mapping population. Our methods are implemented in the segtest R package, available on the Comprehensive R Archive Network (https://doi.org/10.32614/CRAN.package.segtest).

G3 Genes Genomes GeneticsVol. 15(11)
Universidade Federal de Viçosa (BR), Universidade de São Paulo (BR), American University (US), Fundação de Estudos Agrários Luiz de Queiroz (BR)
Openalex Percentile: Top 72%
Genetic Mapping and Diversity in Plants and Animals
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Tests for segregation distortion in higher ploidy F1 populations — Guilherme da Silva Pereira, Antônio Augusto Franco Garcia, et al. · G3 Genes Genomes Genetics (2025) | TGRS Research Map | TGRS