Author

Ya-Nan Chu

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Open access Sep 2026

A T2T Benchmark Reveals How Reference Choice Shapes Human Genome Interpretation

The completion of telomere-to-telomere (T2T) human genomes has expanded the accessible landscape of human genetic variation, yet benchmark resources remain limited to conventional high-confidence regions defined by existing reference frameworks. Here, we generated a near-perfect diploid T2T genome (T2T-LIN) from a Chin...

Zhuo Huang, Ya-Nan Chu, Ya-Bin Tian et al. · bioRxiv · 0 citations

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