GenomicsbioRxivPreprint
The Genome In A Bottle HG002 assembly-based variant benchmark set enables comprehensive benchmarking of small and structural variants.
N. D. Olson, N. Dwarshuis, N. F. Hansen…·Lan
The paper introduces a comprehensive variant benchmark set derived from a high-quality diploid assembly, improving small and structural variant detection across complex genomic regions.
DOI 10.64898/2026.09.23.752440