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copy-number-variation

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Revisiting tandem duplication in plant genomes: Technical challenges and pangenome solutions.

PubMed · 2026-04-22

Standard genome sequencing tools have been systematically misreading the gene-duplication clusters that give plants their disease resistance, collapsing multiple distinct genes into one blurry copy. New long-read pangenome technology can finally reconstruct these regions accurately, revealing hidden genetic variation that matters for crop breeding.

1

Short-read sequencing routinely collapses multi-gene tandem arrays into a single consensus sequence, causing systematic undercounting of disease-resistance and specialized metabolism genes

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Annotation pipelines compound sequencing errors by either fusing distinct array members into one oversized gene model or dropping array members entirely, even when the underlying assembly preserved them

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Graph pangenomes built from long-read, haplotype-resolved assemblies restore individual array members with distinct coordinates, enabling accurate copy-number variant genotyping and per-gene expression analysis