Author

John E. Garza

2 papers indexed here

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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

Open access Jul 2026

HPRC2: A human pangenome reference with near-complete coverage of common genetic variation

The Human Pangenome Reference Consortium’s (HPRC) Release 2 (HPRC2) is presented, an openly available, second phase pangenome that is an approximately fivefold expansion in genome number over HPRC Release 1 (HPRC1) and measurable improvement in genome completeness, contiguity, and accuracy.

Julian K. Lucas, Prajna Hebbar, Wen-Wei Liao et al. · bioRxiv · 6 citations