(1)Analysis of base substitution pattern by comparing closely related species.
論文 (130件):
Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Junko Nomoto, Hiroyuki Ishiura, Yosuke Omae, Yosuke Kawai, Katsushi Tokunaga, Hatsue Ishibashi-Ueda, et al. Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-. Journal of Human Genetics. 2024
Takeo Naito, Ryuya Osaka, Yoichi Kakuta, Yosuke Kawai, Seik-Soon Khor, Junji Umeno, Katsushi Tokunaga, NCBN Controls WGS Consortium, Hantsue Ishibashi-Ueda, Tsutomu Tomita, et al. Genetically Predicted Higher Levels of Caffeic Acid Are Protective Against Ulcerative Colitis: A Comprehensive Metabolome Analysis. Inflammatory Bowel Diseases. 2024
Yuki Hitomi, Kazuko Ueno, Yoshihiro Aiba, Nao Nishida, Michihiro Kono, Mitsuki Sugihara, Yosuke Kawai, Minae Kawashima, Seik-Soon Khor, Kazuhiro Sugi, et al. A genome-wide association study identified PTPN2 as a population-specific susceptibility gene locus for primary biliary cholangitis. Hepatology (Baltimore, Md.). 2024
Wataru Nakamura, Makoto Hirata, Satoyo Oda, Kenichi Chiba, Ai Okada, Raúl Nicolás Mateos, Masahiro Sugawa, Naoko Iida, Mineko Ushiama, Noriko Tanabe, et al. Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes. NPJ genomic medicine. 2024. 9. 1. 11-11
Yosuke Kawai, Yusuke Watanabe, Yosuke Omae, Reiko Miyahara, Seik-Soon Khor, Eisei Noiri, Koji Kitajima, Hideyuki Shimanuki, Hiroyuki Gatanaga, Kenichiro Hata, et al. Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis. PLoS genetics. 2023. 19. 12. e1010625
河合 洋介, 大前 陽輔. 難病の全ゲノム解析プロジェクトにおけるゲノム基盤-Establishment of the platform in the project for genome analysis of rare diseases-特集 全ゲノム解析に基づく難病のゲノム医学. 医学のあゆみ. 2023. 285. 1. 29-33