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Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome.

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第一作者： HoJoon,Lee

第一单位： Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.

作者： HoJoon,Lee ^[1] ; Stephanie U,Greer ^[1] ; Dmitri S,Pavlichin ^[1] ; Bo,Zhou ^[2] ; Alexander E,Urban ^[2] ; Tsachy,Weissman ^[3] ; Human Pangenome Reference Consortium ^[4] ; Hanlee P,Ji

作者单位： Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. ^[1] Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.;Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA. ^[2] Department of Electrical Engineering, Stanford University, Palo Alto, CA 94304, USA. ^[3] Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.;Department of Electrical Engineering, Stanford University, Palo Alto, CA 94304, USA. ^[4]

关键词 k-mer pan-conserved segment pangenome reference genome structural polymorphism structural variations

医学主题词人类(Humans);保守序列(Conserved Sequence);单倍性(Haploidy);肿瘤, 鳞状细胞(Neoplasms, Squamous Cell);多态现象, 遗传(Polymorphism, Genetic);皮肤肿瘤(Skin Neoplasms)

DOI 10.1016/j.crmeth.2023.100543

PMID 37671027

发布时间 2025-09-20

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