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Bioinformatics (Oxford, England)|December 10, 2024
Identification and annotation of centromeric hypomethylated regions with CDR-FinderFrancesco Kumara Mastrorosa, Keisuke K Oshima, Allison N Rozanski, et al.
Biorxiv : the Preprint Server for Biology|November 22, 2024
Identification and annotation of centromeric hypomethylated regions with Centromere Dip Region (CDR)-FinderF Kumara Mastrorosa, Keisuke K Oshima, Allison N Rozanski, et al.
Biorxiv : the Preprint Server for Biology|January 23, 2026
A global view of human centromere variation and evolutionShenghan Gao, Keisuke K Oshima, Shu-Cheng Chuang, et al.
Nature|July 29, 2026
A global view of human centromere variation and evolutionShenghan Gao, Keisuke K Oshima, Shu-Cheng Chuang, et al.
Biorxiv : the Preprint Server for Biology|April 17, 2026
A segmental duplication-mediated deletion leads to neocentromere formation in orangutansLuciana De Gennaro, DongAhn Yoo, Letizia Pistacchia, et al.
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.
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.
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