Art

J-GLOBAL ID：201902270984577447   Reference number：19A0711006

Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project

日本人集団における地域的遺伝的差異と東北医学メガバンクプロジェクトの全ゲノム参照パネルを用いた遺伝子型補完の性能【JST・京大機械翻訳】

Author (27)： Yasuda Jun (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Katsuoka Fumiki (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Danjoh Inaho (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Kawai Yosuke (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Kawai Yosuke (Present address: Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan) ,  Kojima Kaname (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Nagasaki Masao (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Saito Sakae (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Yamaguchi-Kabata Yumi (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Tadaka Shu (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Motoike Ikuko N. (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Kumada Kazuki (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Sakurai-Yageta Mika (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Tanabe Osamu (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Fuse Nobuo (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Tamiya Gen (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Higasa Koichiro (Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Matsuda Fumihiko (Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Yasuda Nobufumi (Department of Public Health, Kochi University Medical School, Nankoku-shi, Japan) ,  Iwasaki Motoki (Division of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan) ,  Sasaki Makoto (Division of Ultrahigh Field MRI, Institute for Biomedical Sciences, Iwate Medical University, Iwate, Japan) ,  Sasaki Makoto (Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, Iwate, Japan) ,  Shimizu Atsushi (Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, Iwate, Japan) ,  Kinoshita Kengo (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Kinoshita Kengo (Graduate School of Information Sciences, Tohoku University, Sendai, Japan) ,  Yamamoto Masayuki (Sendai, Tohoku Medical Megabank Organization, Sendai, Japan) ,  Yamamoto Masayuki (Department of Medical Biochemistry, Graduate School of Medicine, Tohoku University, Sendai, Japan)
Material： BMC Genomics (Web)
Volume： 19  Issue： 1  Page： 551  Publication year： 2018 
JST Material Number： U7048A  ISSN： 1471-2164  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： Genotype imputation from singl...

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Thesaurus term： population (ecology) ,  *Genotype ,  single nucleotide polymorphism ,  Miyagi prefecture ,  *Heredity ,  haplotype ,  *genome ,  *panel ,  gene frequency ,  Japanese Archipelago ,  Genetic Variation ,  genome alignment ,  Genome, Human ,  *Japanese ,  population genetics
Semi thesaurus term： ゲノムプロジェクト , 【Automatic Indexing@JST】

Author keywords (4)： Genome reference panel ,  Genotype imputation ,  Population genetics ,  Japan

JST classification (1)： Structure and chemistry of genes  (EC02020U)

Reference (29)：

• G3 (Bethesda); Imputation-based genomic coverage assessments of current human genotyping arrays; SC Nelson, KF Doheny, EW Pugh, JM Romm, H Ling, CA Laurie, SR Browning, BS Weir, CC Laurie; 3; 2013; 1795-1807; 10.1534/g3.113.007161; citation_id=CR1
• Eur J Hum Genet.; Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of the Netherlands; P Deelen, A Menelaou, EM van Leeuwen, A Kanterakis, F van Dijk, C Medina-Gomez, LC Francioli, JJ Hottenga, LC Karssen, K Estrada; 22; 2014; 1321-1326; 10.1038/ejhg.2014.19; citation_id=CR2
• Nat Commun; Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel; J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, G Malerba, E Trabetti, H-F Zheng; 6; 2015; 8111; 10.1038/ncomms9111; citation_id=CR3
• Nat Genet; A reference panel of 64,976 haplotypes for genotype imputation; S McCarthy, S Das, W Kretzschmar, O Delaneau, AR Wood, A Teumer, HM Kang, C Fuchsberger, P Danecek, K Sharp; 48; 2016; 1279-1283; 10.1038/ng.3643; citation_id=CR4
• G3 (Bethesda); Genotype imputation with thousands of genomes; B Howie, J Marchini, M Stephens; 1; 2011; 457-470; 10.1534/g3.111.001198; citation_id=CR5

Terms in the title (10)： 日本人 ,  集団 ,  地域 ,  遺伝 ,  差異 ,  医学 ,  ゲノム ,  参照 ,  遺伝子型 ,  補完