biorxiv.org

PanVariants: Best Practice for Pangenome-based Variant Calling Pipeline and Framework (opens in new tab)

Background: Although pangenome references offer richer population diversity compared to linear references, current mainstream pangenome-based variant callers are limited to detecting only known variants stored in the graph. To address this limitation, we developed PanVariants, a novel pipeline designed to improve the detection of both known and novel variants accurately. We systematically evaluated its performance against the traditional linear alignment solution (BWA+GATK/Manta) and the exis...

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