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J-GLOBAL ID：201902284697981093   Reference number：19A1583500

Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals

日本人3552人の全ゲノム参照パネルを用いた新生児スクリーニング障害のキャリア頻度の推定【JST・京大機械翻訳】

Author (44)： Yamaguchi-Kabata Yumi (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Yamaguchi-Kabata Yumi (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Yasuda Jun (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Yasuda Jun (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Yasuda Jun (Present address: Miygai Cancer Center Research Institute, Natori, Japan) ,  Uruno Akira (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Uruno Akira (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Shimokawa Kazuro (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Koshiba Seizo (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Suzuki Yoichi (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Suzuki Yoichi (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Suzuki Yoichi (Present address: Ageo Central General Hospital, Ageo, Japan) ,  Fuse Nobuo (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Fuse Nobuo (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Kawame Hiroshi (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Kawame Hiroshi (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Tadaka Shu (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Nagasaki Masao (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Nagasaki Masao (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Nagasaki Masao (Graduate School of Information Sciences, Tohoku University, Sendai, Japan) ,  Kojima Kaname (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Kojima Kaname (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Kojima Kaname (Graduate School of Information Sciences, Tohoku University, Sendai, Japan) ,  Katsuoka Fumiki (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Katsuoka Fumiki (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Kumada Kazuki (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Tanabe Osamu (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Tanabe Osamu (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Tanabe Osamu (Present address: Radiation Effects Research Foundation Hiroshima Laboratory, Hiroshima, Japan) ,  Tamiya Gen (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Tamiya Gen (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Tamiya Gen (Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan) ,  Yaegashi Nobuo (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Yaegashi Nobuo (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Kinoshita Kengo (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Kinoshita Kengo (Graduate School of Information Sciences, Tohoku University, Sendai, Japan) ,  Kinoshita Kengo (Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan) ,  Kinoshita Kengo (Advanced Research center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, Japan) ,  Yamamoto Masayuki (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Yamamoto Masayuki (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  Yamamoto Masayuki (Advanced Research center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, Japan) ,  Kure Shigeo (Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Kure Shigeo (Graduate School of Medicine, Tohoku University, Sendai, Japan) ,  The Tohoku Medical Megabank Project Study Group
Material： Human Genetics
Volume： 138  Issue： 4  Page： 389-409  Publication year： 2019 
JST Material Number： E0781B  ISSN： 0340-6717  CODEN： HUGEDQ  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Abstract/Point： Incidence rates of Mendelian d...

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Thesaurus term： permeability ,  *panel ,  *neonate ,  estimator ,  annotation ,  human ,  pathogenicity ,  recessive ,  gene ,  *genome ,  *Neonatal Screening ,  citrin ,  causative gene ,  *Japanese ,  Genetic Variation
Semi thesaurus term： variation(biology) , 【Automatic Indexing@JST】

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (8)： 日本人 ,  ゲノム ,  参照 ,  新生児スクリーニング ,  障害 ,  キャリア ,  頻度 ,  推定