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論文
- タイトル
- タイトル（英）
- JoGo 1.0: the ACTG hierarchical nomenclature and database covering 4.7 million haplotypes across 19,194 human genes
- 参照URL
- https://researchmap.jp/yuichirohara/published_papers/52784762
- 著者
- 著者（英）
- Masao Nagasaki,Toshiaki Katayama,Yuki Moriya,Yayoi Sekiya,Shuichi Kawashima,Ryo Teraoka,Shuto Machida,Taichi Matsubara,Hiroki Hashimoto,Akihiro Asakura,Akio Nagano,Riu Yamashita,Toyoyuki Takada,Nobutaka Mitsuhashi,Mayumi Kamada,Yasuyuki Ohkawa,Katsushi Tokunaga,Yosuke Kawai,Masao Nagasaki,Toshiaki Katayama,Yuki Moriya,Shuichi Kawashima,Shuto Machida,Taichi Matsubara,Akio Nagano,Riu Yamashita,Toyoyuki Takada,Nobutaka Mitsuhashi,Takatomo Fujisawa,Mayumi Kamada,Daisuke Satoh,Tsuyoshi Hachiya,Masaki Ohira,Yoko Kuroki,Patricia Severino,Samuel Papa Kwesi Owusu,Yifan Huangfu,Atsushi Doi,Yuichiro Hara,Minae Kawashima,Yosuke Kawai
- 担当区分
- 概要
- 概要（英）
- Abstract The Joint Open Genome and Omics Platform 1.0 (JoGo) is a global, long-read-based human haplotype database covering 19 194 MANE-standardized protein-coding genes. JoGo introduces a novel ACTG hierarchical nomenclature—A (amino acid), C (coding), T (transcript), and G (gene body)—that assigns numeric identifiers in descending order of global frequency. Using high-fidelity long-read sequencing, we assembled haplotype-resolved contigs for 258 globally sampled genomes, including 108 sequenced in-house. We cataloged 174 376 A-, 300 610 C-, 486 288 T-, and 3 695 204 G-level haplotypes (4 656 478 in total). Haplotype IDs are assigned once globally across all sequences, including those originating from GRCh38 and CHM13v2 reference assemblies, embedding reference haplotypes within the same frequency-ranked space and enabling direct cross-assembly comparison. JoGo maps functional variants from ClinVar, GWAS Catalog, and GTEx onto their corresponding ACTG-haplotypes and provides haplotype-expression QTL results from 1280 HapMap RNA-seq samples across three independent studies. The web portal provides flexible search by gene name, variant ID, or ACTG code. It offers both an interactive online viewer and a privacy-preserving local viewer for secure integration with user data. JoGo enables high-resolution exploration of haplotype diversity, facilitating the identification of functional variants relevant to gene regulation, disease associations, and precision medicine. JoGo 1.0 is freely accessible at https://jogo.csml.org.
- 出版者・発行元
- 出版者・発行元（英）
- Oxford University Press (OUP)
- 誌名
- 誌名（英）
- Nucleic Acids Research
- 巻
- 号
- 開始ページ
- 終了ページ
- 出版年月
- 2025年11月29日
- 査読の有無
- 査読有り
- 招待の有無
- 掲載種別
- 研究論文（学術雑誌）
- ISSN
- 0305-1048
- DOI URL
- https://doi.org/10.1093/nar/gkaf1232
- 共同研究・競争的資金等の研究課題
研究者
原 雄一郎
( )