Extensive sequence duplication in Arabidopsis revealed by pseudo-heterozygosity.
Benjamin JaegleRahul PisupatiLuz Mayela Soto-JiménezRobin BurnsFernando A RabanalMagnus NordborgPublished in: Genome biology (2023)
Our study confirms that most heterozygous SNP calls in A. thaliana are artifacts and suggest that great caution is needed when analyzing SNP data from short-read sequencing. The finding that 10% of annotated genes exhibit copy-number variation, and the realization that neither gene- nor transposon-annotation necessarily tells us what is actually mobile in the genome suggests that future analyses based on independently assembled genomes will be very informative.