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  5. A comparison of 27 Arabidopsis thaliana genomes and the path toward an unbiased characterization of genetic polymorphism.

A comparison of 27 Arabidopsis thaliana genomes and the path toward an unbiased characterization of genetic polymorphism.

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Resource type
Journal article
Creator (person)
Igolkina, Anna A.
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Vorbrugg, Sebastian
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Rabanal, Fernando A.
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Liu, Hai-Jun
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Ashkenazy, Haim
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Date published
August 19, 2025
Abstract

Making sense of whole-genome polymorphism data is challenging, but it is essential for overcoming the biases in SNP data. Here we analyze 27 genomes of to illustrate these issues. Genome size variation is mostly due to tandem repeat regions that are difficult to assemble. However, while the rest of the genome varies little in length, it is full of structural variants, mostly due to transposon insertions. Because of this, the pangenome coordinate system grows rapidly with sample size and ultimately becomes 70% larger than the size of any single genome, even for = 27. Finally, we show how short-read data are biased by read mapping. SNP calling is biased by the choice of reference genome, and both transcriptome and methylome profiling results are affected by mapping reads to a reference genome rather than to the genome of the assayed individual.

Organisational unit
Science
Project(s)
Priority 2: Trait Diversity and Function
Funder
Funder nameISNIAwards
Max-Planck-Gesellschaft, Germany
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Open access funding
Journal title
Nature Genetics
Publisher
Springer Science and Business Media LLC
Place of publication
Berlin/Heidelberg, Germany
ISSN
1061-4036
eISSN
1546-1718
Date accepted
July 10, 2025
Official URL
https://doi.org/10.1038/s41588-025-02293-0
Related URL
https://www.nature.com/articles/s41588-025-02293-0
Rights statement
In Copyright
Licence
CC BY 4.0
DOI
10.1038/s41588-025-02293-0
Keywords
SNP data
Genetic polymorphism
Genome sequence
Arabidopsis thaliana
Genome size variation
Additional information
IF = 29.0 (2024)
Managed by the British Library and supported by the AHRC

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