A T2T Benchmark Reveals How Reference Choice Shapes Human Genome Interpretation
Zhuo Huang, Yanan Chu, Yabin Tian, Changjun Shao, Jian Wang, Xueqi Zhang, Jing Chen, Zheng Jia, Lili Li, Jiale Li, Guigao Lin, Kuo Zhang, Stylianos E. Antonarakis, Yu Kang, Jie Huang
This paper benchmarks how reference genome choice affects human genome interpretation by comparing T2T references and finding ancestry-matched references provide more accurate variant discovery.
bioRxiv · Sep 10, 2026 · PreprintGenomics