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, S. Koren, A. Rhie, J. H. McDaniel, J. Wagner, G. Berry, K. Shafin, A. English, C. T. Saunders, R. Kundu, J. M. Holt, D. Freed, A. A. Abdulkadir, , 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.
bioRxiv · Oct 1, 2026 · PreprintGenomics