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Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Yamaguchi-Kabata, Yumi; Yasuda, Jun; Tanabe, Osamu; Suzuki, Yoichi; Kawame, Hiroshi; Fuse, Nobuo; Nagasaki, Masao; Kawai, Yosuke; Kojima, Kaname; Katsuoka, Fumiki; Saito, Sakae; Danjoh, Inaho; Motoike, Ikuko N; Yamashita, Riu; Koshiba, Seizo; Saigusa, Daisuke; Tamiya, Gen; Kure, Shigeo; Yaegashi, Nobuo; Kawaguchi, Yoshio; Nagami, Fuji; Kuriyama, Shinichi; Sugawara, Junichi; Minegishi, Naoko; Hozawa, Atsushi; Ogishima, Soichi; Kiyomoto, Hideyasu; Takai-Igarashi, Takako; Kinoshita, Kengo; Yamamoto, Masayuki.
Affiliation
  • Yamaguchi-Kabata Y; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan. yamaguchi@megabank.tohoku.ac.jp.
  • Yasuda J; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan. yamaguchi@megabank.tohoku.ac.jp.
  • Tanabe O; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Suzuki Y; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
  • Kawame H; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Fuse N; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
  • Nagasaki M; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Kawai Y; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
  • Kojima K; Ageo Central General Hospital, Ageo, 362-8588, Japan.
  • Katsuoka F; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Saito S; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
  • Danjoh I; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Motoike IN; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
  • Yamashita R; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Koshiba S; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
  • Saigusa D; Graduate School of Information Sciences, Tohoku University, Aoba-ku, Sendai, 980-8579, Japan.
  • Tamiya G; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Kure S; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
  • Yaegashi N; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Kawaguchi Y; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
  • Nagami F; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Kuriyama S; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
  • Sugawara J; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Minegishi N; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
  • Hozawa A; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Ogishima S; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
  • Kiyomoto H; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Takai-Igarashi T; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
  • Kinoshita K; Tohoku Medical Megabank Organization, Tohoku University, Aoba-ku, Sendai, 980-8573, Japan.
  • Yamamoto M; Graduate School of Medicine, Tohoku University, Aoba-ku, Sendai, 980-8575, Japan.
J Hum Genet ; 63(2): 213-230, 2018 Feb.
Article in En | MEDLINE | ID: mdl-29192238
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Databases, Nucleic Acid / Alleles / Genome-Wide Association Study / Gene Frequency / Mutation Type of study: Clinical_trials / Observational_studies / Risk_factors_studies Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Databases, Nucleic Acid / Alleles / Genome-Wide Association Study / Gene Frequency / Mutation Type of study: Clinical_trials / Observational_studies / Risk_factors_studies Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: