Learning a refinement model for variant analysis in non-human primate genomes.

Abstract excerpt

BACKGROUND: Accurate variant calling is essential for genomic studies but is highly dependent on sequence alignment (SA) quality. In non-human primates, the lack of well-curated variant resources limits alignment postprocessing, leading to suboptimal SA and increased miscalls. DeepVariant, a leading variant caller, demonstrates high accuracy in human genomes but exhibits performance degradation under suboptimal...

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