Author

M. Geleta

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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

Open access Aug 2026

A high-resolution human pangenome structural variant resource for improved disease association

This work describes the full spectrum of genetic variation and shows that while 99% of the variants between any two genomes are single base-pair substitutions, 88% of the euchromatic variant base pairs are SVs, including insertions, deletions, duplications, and inversions.

J. Lin, J. Gustafson, J. Wertz et al. · medRxiv · 0 citations