Complex genetic variation in nearly complete human genomes
Glennis A. Logsdon, Peter Ebert, Peter A. Audano, Mark G. Loftus, David Porubskỳ, Jana Ebler, Feyza Yilmaz, Pille Hallast, Timofey Prodanov, DongAhn Yoo, Carolyn A. Paisie, William T. Harvey, Xuefang Zhao, Gianni V. Martino, Mir Henglin, , Tobias Marschall
Hybrid HiFi/ultra-long ONT assemblies of 65 diverse humans yield 130 haplotypes, 1,246 complete centromeres, and a pangenome panel enabling short-read genome inference at median QV 45.
Nature · Jul 23, 2025Peer-reviewedGenomics✦ In-depth digest