GBZ-base and GAF-base: Indexed pangenome file formats
Jouni Sirén, Benedict Paten, Derek Albracht…·Sergey Koren
The paper introduces GBZ-base and GAF-base, indexed pangenome file formats for efficient subgraph and alignment extraction.
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Xi'an Jiaotong UniversityORCID 0000-0002-3810-6527Unclaimed ORCID profile · follow to get notified of new preprints
10 papers
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Jouni Sirén, Benedict Paten, Derek Albracht…·Sergey Koren
The paper introduces GBZ-base and GAF-base, indexed pangenome file formats for efficient subgraph and alignment extraction.
Pille Hallast, Arang Rhie, Mark G. Loftus…·Charles Lee
The paper presents a population-scale Y chromosome reference panel with 142 assemblies, revealing structural and epigenetic variation across 180,000 years of evolution.
Shenghan Gao, Keisuke K. Oshima, Shu-Cheng Chuang…·Pi-Chuan Chang
The paper assembles and characterizes 2,110 human centromeres, revealing novel haplotypes, mobile element insertions, and mutation rate variation across chromosomes.
Julian Lucas, Prajna Hebbar, Wen‐Wei Liao…·Jane E. Loveland
460 haplotypes from 230 genomes, selected to maximize common-variant coverage, capture 99.43% of All of Us common small variants and halve structurally unreliable regions and base errors versus HPRC1.
Justin Wagner, Ayşe Gökçe Keşküş, Keisuke K. Oshima…·Justin M. Zook
This paper presents near-complete, haplotype-resolved assemblies of a pancreatic cancer genome and normal tissue, identifying extensive somatic variants and epigenetic changes in previously excluded regions.
Tun Xu, Stephen J. Bush, Yizhuo Che…·Kai Ye
The paper develops LTR_Stream to cluster LTR-RTs in Papaver species, revealing complex interactions between retrotransposons and the host genome, including effects of allopolyploidization.
Shenghan Gao, Yimeng Zhang, Stephen J. Bush…·Kai Ye
The paper analyzes centromere diversity across hundreds of human genomes using HiFi sequencing and a novel HOR annotation pipeline, identifying 23 HORs with significant copy number variation and three centromere genotypes on chromosomes 5, 8, and 17.
Shenghan Gao, Xiaofei Yang, Hongtao Guo…·Kai Ye
HiCAT automatically annotates centromere structure using hierarchical tandem repeat mining, improving continuity and revealing fine structures in human and Arabidopsis genomes.
Bo Wang, Xiaofei Yang, Yanyan Jia…·Kai Ye
The paper presents a high-quality Arabidopsis thaliana genome assembly using long-read sequencing and Hi-C data, resolving previously missing regions and centromeres.