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American Journal of Human Genetics|June 17, 2026
Complete chromosome 21 centromere sequencing of families with Down syndromeF Kumara Mastrorosa, Alessia Daponte, Luciana de Gennaro, et al.Lancet (London, England)|June 22, 2001
Whole genome sequencing of meticillin-resistant Staphylococcus aureusM Kuroda, T Ohta, I Uchiyama, et al.Biorxiv : the Preprint Server for Biology|June 12, 2026
Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architecturesPille Hallast, Arang Rhie, Mark Loftus, et al.Biorxiv : the Preprint Server for Biology|August 16, 2024
A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigreeDavid Porubsky, Harriet Dashnow, Thomas A Sasani, et al.Nature|April 24, 2025
Human de novo mutation rates from a four-generation pedigree referenceDavid Porubsky, Harriet Dashnow, Thomas A Sasani, et al.Biorxiv : the Preprint Server for Biology|September 26, 2025
A complete diploid human genome benchmark for personalized genomicsNancy F Hansen, Nathan Dwarshuis, Hyun Joo Ji, et al.Biorxiv : the Preprint Server for Biology|October 7, 2024
Complex genetic variation in nearly complete human genomesGlennis A Logsdon, Peter Ebert, Peter A Audano, et al.Nature|July 23, 2025
Complex genetic variation in nearly complete human genomesGlennis A Logsdon, Peter Ebert, Peter A Audano, et al.Biorxiv : the Preprint Server for Biology|May 18, 2026
A complete human pancreatic cancer genomeJustin Wagner, Ayse G Keskus, Keisuke K Oshima, et al.Biorxiv : the Preprint Server for Biology|August 1, 2026
HPRC2: A human pangenome reference with near-complete coverage of common genetic variationJulian K Lucas, Prajna Hebbar, Wen-Wei Liao, et al.Pageof 27