Author

Justin Wagner

2 papers indexed here

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Sep 2026

The Genome In A Bottle HG002 assembly-based variant benchmark set enables comprehensive benchmarking of small and structural variants

The Genome in a Bottle (GIAB) Consortium’s HG002 v5.0q benchmark set is presented, a more comprehensive variant benchmark derived from a fully phased, highly curated, and accurate diploid assembly of HG002 to provide confident small- and structural-variant calls across previously inaccessible regions.

Nathan D. Olson, Nathan Dwarshuis, Nancy F. Hansen et al. · bioRxiv · 1 citation

Open access Aug 2026

A complete diploid human genome benchmark for personalized genomics

A telomere-to-telomere genome benchmark with near-perfect accuracy across 99.4% of the diploid HG002 genome is presented, expanding the reach of genomic medicine to the entire genome and enabling a new era of personalized genomics.

Nancy F. Hansen, Nathan Dwarshuis, Hyun Joo Ji et al. · Cell · 8 citations