Open access
Oct 2026
A pangenomic method for establishing a synthetic somatic variant resource in HapMap mixtures.
Evaluating multiple callers showed that telomere-to-telomere CHM13 alignment improves structural variant detection and offers advantages in difficult-to-map regions compared to GRCh38, and a binomial-based model was developed to estimate coverage requirements for variant detection.
Nahyun Kong, Zi-Tian Tang, Andrew Ruttenberg et al.
· Cell Genomics · 1 citation