東北メディカル・メガバンク機構

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    Functional characterization of 21 allelic variants of dihydropyrimidine dehydrogenase identified in 1,070 Japanese individuals

    Eiji Hishinuma, Yoko Narita, Sakae Saito, Masamitsu Maekawa, Fumika Akai, Yuya Nakanishi, Jun Yasuda, Masao Nagasaki, Masayuki Yamamoto, Hiroaki Yamaguchi, Nariyasu Mano, Noriyasu Hirasawa, Masahiro Hiratsuka
    Drug Metabolism and Disposition
    Published online May 16, 2018.
    DOI: 10.1124/dmd.118.081737

    解説ページへ   原著論文へ

    Severity of eczema and mental health problems in Japanese schoolchildren: The ToMMo Child Health Study

    Naoki Nakaya, Harumi Nemoto, Carine Yi, Ayako Sato, Kotomi Shingu, Tomoka Shoji, Shosuke Sato, Naho Tsuchiya, Tomohiro Nakamura, Akira Narita, Mana Kogure, Yumi Sugawara, Zhiqian Yu, Nicole Gunawansa, Shinichi Kuriyama, Osamu Murao, Takeshi Sato, Fumihiko Imamura, Ichiro Tsuji, Atsushi Hozawa, Hiroaki Tomita
    International Journal of Disaster Risk Reduction誌2018年6月第28巻 206-213頁
    Available online: 13 April 2018
    https://doi.org/10.1016/j.ijdrr.2018.02.037

    解説ページへ   原著論文へ

    Effect of tsunami drill experience on evacuation behavior after the onset of the Great East Japan Earthquake

    Yasutaka Kuniyoshi, Masahiro Kikuya, Masako Miyashita, Chizuru Yamanaka, Mami Ishikuro, Taku Obara, Hirohito Metoki, Naoki Nakaya, Fuji Nagami, Hiroaki Tomita, Atsushi Hozawa, Ichiro Tsuji, Shigeo Kure, Nobuo Yaegashi, Masayuki Yamamoto, Shinichi Kuriyama
    Allergology International
    Available online: 22 February 2018
    DOI: 10.1016/j.alit.2018.02.009

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    Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma

    Yukihiro Shiga, Masato Akiyama, Koji M Nishiguchi, Kota Sato, Nobuhiro Shimozawa, Atsushi Takahashi, Yukihide Momozawa, Makoto Hirata, Matsuda Koichi, Taiki Yamaji, Motoki Iwasaki, Shoichiro Tsugane, Isao Oze, Haruo Mikami, Mariko Naito, Kenji Wakai, Munemitsu Yoshikawa, Masahiro Miyake, Kenji Yamashiro, Japan Glaucoma Society Omics Group, Kenji Kashiwagi, Takeshi Iwata, Fumihiko Mabuchi, Mitsuko Takamoto, Mineo Ozaki, Kazuhide Kawase, Makoto Aihara, Makoto Araie, Tetsuya Yamamoto, Yoshiaki Kiuchi, Makoto Nakamura, Yasuhiro Ikeda Koh-Hei Sonoda, Tatsuro Ishibashi, Koji Nitta, Aiko Iwase, Shiroaki Shirato, Yoshitaka Oka, Mamoru Satoh, Makoto Sasaki, Nobuo Fuse, Yoichi Suzuki, Ching-Yu Cheng, Chiea Chuen Khor, Mani Baskaran, Shamira Perera, Tin Aung, Eranga N Vithana, Jessica N Cooke Bailey,Jae H Kang, Louis R Pasquale, Jonathan L Haines, NEIGHBORHOOD consortium, Janey L Wiggs, Kathryn P Burdon, Puya Gharahkhani, Alex W Hewitt, David A Mackey, Stuart MacGregor, Jamie E Craig, R Rand Allingham, Micheal Hauser, Adeyinka Ashaye, Donald L Budenz, Stephan Akafo, Susan EI Williams, Yoichiro Kamatani, Toru Nakazawa, Michiaki Kubo
    Human Molecular Genetics
    Published: 14 February 2018
    DOI:https://doi.org/10.1093/hmg/ddy053

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    Construction of full-length Japanese reference panel of class I HLA genes with single-molecule, real-time sequencing

    Takahiro Mimori, Jun Yasuda, Yoko Kuroki, Tomoko F. Shibata, Fumiki Katsuoka, Sakae Saito, Naoki Nariai, Akira Ono, Naomi Nakai-Inagaki, Kazuharu Misawa, Keiko Tateno, Yosuke Kawai, Nobuo Fuse, Atsushi Hozawa, Shinichi Kuriyama, Junichi Sugawara, Naoko Minegishi, Kichiya Suzuki, Kengo Kinoshita, Masao Nagasaki, Masayuki Yamamoto
    The Pharmacogenomics Journal
    Published:19 January 2018
    DOI: 10.1016/j.alit.2018.02.009

    解説ページへ   原著論文へ

    Identification of somatic mutations in postmortem human brains by whole genome sequencing and their implications for psychiatric disorders

    Masaki Nishioka, Miki Bundo, Junko Ueda, Fumiki Katsuoka, Yukuto Sato, Yoko Kuroki, Takao Ishii, Wataru Ukai, Shigeo Murayama, Eri Hashimoto, Masao Nagasaki, Jun Yasuda, Kiyoto Kasai, Tadafumi Kato, Kazuya Iwamoto
    Accepted manuscript online: 28 December 2017
    DOI: 10.1111/pcn.12632

    邦題:全ゲノム解析による脳組織での体細胞変異の同定と精神神経疾患発症との関連

    解説ページへ   原著論文へ

    Genome-wide meta-analysis in Japanese populations identifies novel variants at the TMC6-TMC8 and SIX3-SIX2 loci associated with HbA1c

    Tsuyoshi Hachiya, Shohei Komaki, Yutaka Hasegawa, Hideki Ohmomo, Kozo Tanno, Atsushi Hozawa, Gen Tamiya, Masayuki Yamamoto, Kuniaki Ogasawara, Motoyuki Nakamura, Jiro Hitomi, Yasushi Ishigaki, Makoto Sasaki and Atsushi Shimizu
    Published online:23 November 2017
    DOI: 10.1038/s41598-017-16493-0

    邦題:日本人集団の全ゲノムメタ解析がHbA1cと関連するTMC6-TMC8 及び SIX3-SIX2座位の新規多型を同定

    解説ページへ   原著論文へ

    Genome-wide association study identifies 112 loci for body mass index in the Japanese population

    Masato Akiyama, Yukinori Okada, Masahiro Kanai, Atsushi Takahashi, Yukihide Momozawa, Masashi Ikeda, Nakao Iwata, Shiro Ikegawa, Makoto Hirata, Koichi Matsuda, Motoki Iwasaki, Taiki Yamaji, Norie Sawada, Tsuyoshi Hachiya, Kozo Tanno, Atsushi Shimizu, Atsushi Hozawa, Naoko Minegishi, Shoichiro Tsugane, Masayuki Yamamoto, Michiaki Kubo and Yoichiro Kamatani.
    Nature genetics
    Published: 11 September 2017
    DOI: 10.1038/ng.3951

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    Population-based biobank participants’ preferences for receiving genetic test results

    Kayono Yamamoto, Tsuyoshi Hachiya, Akimune Fukushima, Naoki Nakaya, Akira Okayama, Kozo Tanno, Fumie Aizawa, Tomoharu Tokutomi, Atsushi Hozawa and Atsushi Shimizu
    Journal of Human Genetics
    Published: 10 August 2017
    doi:10.1016/j.mayocp.2014.03.015

    邦題:住民バイオバンク参加者の遺伝学的検査結果回付への需要

    解説ページへ   原著論文へ

    Development of a Questionnaire Method of Screening for Citrin Deficiency in Schoolchildren

    Masako Miyashita, Mami Ishikuro, Masahiro Kikuya, Chizuru Yamanaka, Satoshi Mizuno, Masato Nagai, Yuki Sato, Taku Obara, Hirohito Metoki, Atsuo Kikuchi, Naoki Nakaya, Atsushi Hozawa, Ichiro Tsuji, Nobuo Yaegashi, Masayuki Yamamoto, Shigeo Kure and Shinichi Kuriyama
    Published: 10 July 2017 
    DOI: 10.1620/tjem.236.123

    解説ページへ   原著論文へ

    Detecting genetic association through shortest paths in a bi-directed graph

    Masao Ueki, Yoshinori Kawasaki, Gen Tamiya
    Genetic Epiemiology
    First published: 19 June 2017
    DOI: 10.1002/gepi.22051

    解説ページへ   原著論文へ

    A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients

    Teruhiko Hamanaka, Masae Kimura, Tetsuro Sakurai, Nobuo Ishida, Jun Yasuda, Masao Nagasaki, Naoki Nariai, Atsushi Endo, Kei Homma, Fumiki Katsuoka, Yoichi Matsubara, Masayuki Yamamoto, Nobuo Fuse
    Published: May 2017
    DOI: 10.1167/iovs.16-20646

    解説ページへ   原著論文へ

    Genome-wide identification of inter-individually variable DNA methylation sites improves the efficacy of epigenetic association studies

    Tsuyoshi Hachiya, Ryohei Furukawa, Yuh Shiwa, Hideki Ohmomo, Kanako Ono, Fumiki Katsuoka, Masao Nagasaki, Jun Yasuda, Nobuo Fuse, Kengo Kinoshita, Masayuki Yamamoto, Kozo Tanno, Mamoru Satoh, Ryujin Endo, Makoto Sasaki, Kiyomi Sakata, Seiichiro Kobayashi, Kuniaki Ogasawara, Jiro Hitomi, Kenji Sobue and Atsushi Shimizu
    npj Genomic Medicine 2, Article number: 11 (2017)
    Published: 13 April 2017
    doi:10.1038/s41525-017-0016-5

    邦題:全ゲノム規模の個人毎のDNAメチル化部位の変動部位の同定はエピゲノム関連解析の有効性を改善できる

    解説ページへ   原著論文へ

    Drug Use before and during Pregnancy in Japan: The Japan Environment and Children’s Study

    Hidekazu Nishigori, Taku Obara, Toshie Nishigori, Hirohito Metoki, Mami Ishikuro, Satoshi Mizuno, Kasumi Sakurai, Nozomi Tatsuta, Ichiko Nishijima, Ikuma Fujiwara, Takahiro Arima, Kunihiko Nakai, Nariyasu Mano, Shinichi Kuriyama, Nobuo Yaegashi and Japan Environment & Children’s Study Group
    Published: 10 April 2017
    DOI: 10.3390/pharmacy5020021

    邦題:日本人妊婦の医薬品・サプリメント使用:エコチル調査

    解説ページへ   原著論文へ

    Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ocular complications

    Mayumi Ueta, Hiromi Sawai, Ryosei Shingaki, Yusuke Kawai, Chie Sotozono, Kaname Kojima, Kyung-Chul Yoon, Mee Kum Kim, Kyoung Yul Seo, Choun-Ki Joo, Masao Nagasaki, Shigeru Kinoshita and Katsushi Tokunaga
    Published online:19 January 2017
    DOI: 10.1038/jhg.2016.160

    解説ページへ   原著論文へ

    網羅的ゲノム解析における偶発的所見を含む遺伝情報の結果の返却に関する我が国の現状と課題の検討―米国臨床遺伝・ゲノム学会(ACMG)の偶発的所見取り扱いに関する推奨からの考察―

    Review of present state and challenges regarding return of genomic results from genome-wide analysis in Japan: Consideration of American College of Medical Genetics and Genomics (ACMG) recommendation for reporting incidental findings
    日本遺伝カウンセリング学会誌 37(3): 105-126 2016

    解説ページへ

    Genetic Predisposition to Ischemic Stroke: A Polygenic Risk Score

    Tsuyoshi Hachiya; Yoichiro Kamatani, Atsushi Takahashi, Jun Hata, Ryohei Furukawa, Yuh Shiwa, Taiki Yamaji, Megumi Hara, Kozo Tanno, Hideki Ohmomo, Kanako Ono BSc; Naoyuki Takashima, Koichi Matsuda, Kenji Wakai, Norie Sawada, Motoki Iwasaki, Kazumasa Yamagishi, Tetsuro Ago, Toshiharu Ninomiya, Akimune Fukushima, Atsushi Hozawa, Naoko Minegishi, Mamoru Satoh, Ryujin Endo, Makoto Sasaki, Kiyomi Sakata, Seiichiro Kobayashi, Kuniaki Ogasawara, Motoyuki Nakamura, Jiro Hitomi, Yoshikuni Kita, Keitaro Tanaka, Hiroyasu Iso, Takanari Kitazono, Michiaki Kubo, Hideo Tanaka, Shoichiro Tsugane, Yutaka Kiyohara, Masayuki Yamamoto, Kenji Sobue, Atsushi Shimizu
    Stroke
    Originally published:December 29, 2016
    doi:10.1161/STROKEAHA.116.014506

    邦題:脳梗塞の遺伝的体質;多遺伝子リスク評価

    解説ページへ   原著論文へ

    Impact of social capital on psychological distress and interaction with house destruction and displacement after the Great East Japan Earthquake of 2011

    Naho Tsuchiya, Naoki Nakaya, Tomohiro Nakamura, Akira Narita, Mana Kogure, Jun Aida, Ichiro Tsuji, Atsushi Hozawa and Hiroaki Tomita
    Psychiatry and Clinical Neurosciences
    First published: 21 December 2016
    DOI: 10.1111/pcn.12467

    邦題:東日本大震災後の心理的苦痛に対するソーシャルキャピタルの影響、および家屋の損壊と転居の相互作用

    解説ページへ   原著論文へ

    Establishment of Protocols for Global Metabolomics by LC-MS for Biomarker Discovery

    Daisuke Saigusa, Yasunobu Okamura, Ikuko N. Motoike, Yasutake Katoh, Yasuhiro Kurosawa, Reina Saijyo, Seizo Koshiba, Jun Yasuda, Hozumi Motohashi, Junichi Sugawara, Osamu Tanabe, Kengo Kinoshita, and Masayuki Yamamoto
    PLoS ONE 11(8): e0160555
    Published: August 31, 2016
    DOI: 10.1371/journal.pone.0160555

    邦題:バイオマーカー探索を目的とした質量分析計によるヒト血漿中代謝物の網羅的メタボロミクス解析プロトコルの開発

    解説ページへ   原著論文へ

    Partners’ Ongoing Treatment for Chronic Disease and the Risk of Psychological Distress after the Great East Japan Earthquake

    Naoki Nakaya, Akira Narita, Naho Tsuchiya, Tomohiro Nakamura, Ichiro Tsuji, Atsushi Hozawa, Hiroaki Tomita
    Vol. 239 (2016) No. 4 August p. 307-314
    Published online August 10, 2016
    http://doi.org/10.1620/tjem.239.307

    邦題:配偶者の慢性疾患治療と心理的苦痛リスク

    解説ページへ   原著論文へ

    Psychological Distress and the Risk of Withdrawing From Hypertension Treatment After an Earthquake Disaster

    Naoki Nakaya, Tomohiro Nakamura, Naho Tsuchiya, Akira Narita, Ichiro Tsuji, Atsushi Hozawa and Hiroaki Tomita
    Published online: 23 June 2016
    Disaster Medicine and Public Health Preparedness
    doi: 10.1017/dmp.2016.102

    邦題:震災後の心理的苦痛と高血圧治療中断リスク

    解説ページへ   原著論文へ

    Comparison of Boiling and Robotics Automation Method in DNA Extraction for Metagenomic Sequencing of Human Oral Microbes

    Junya Yamagishi , Yukuto Sato , Natsuko Shinozaki, Bin Ye, Akito Tsuboi, Masao Nagasaki , Riu Yamashita
    Published: April 22, 2016
    PLoS One. 2016 Apr 22;11(4):e0154389.
    doi: 10.1371/journal.pone.0154389.

    解説ページへ   原著論文へ

    Public Attitudes toward an Epidemiological Study with Genomic Analysis in the Great East Japan Earthquake Disaster Area

    Mami Ishikuro, Naoki Nakaya, Taku Obara, Yuki Sato, Hirohito Metoki, Masahiro Kikuya, Naho Tsuchiya, Tomohiro Nakamura, Fuji Nagami, Shinichi Kuriyama, Atsushi Hozawa and the ToMMo Study Group
    Prehospital and Disaster Medicine: Published online: 28 March 2016 DOI: 10.1017/S1049023X16000182

    邦題:東日本大震災被災地域におけるゲノム解析を伴う疫学調査に対する人々の意識

    解説ページへ   原著論文へ

    A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies

    Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Hiromi Nyuzuki, Yohsuke Moriyama, Yosuke Mizuno, Tomoko Hirata, Yukiko Yatsuka, Yzumi Yamashita-Sugahara, Yutaka Nakachi, Hidemasa Kato, Akihiko Okuda, Shunsuke Tamaru, Nurun Nahar Borna, Kengo Banshoya, Toshiro Aigaki, Yukiko Sato-Miyata, Kohei Ohnuma, Tsutomu Suzuki, Asuteka Nagao, Hazuki Maehata, Fumihiko Matsuda, Koichiro Higasa, Masao Nagasaki, Jun Yasuda, Masayuki Yamamoto, Takuya Fushimi, Masaru Shimura, Keiko Kaiho-Ichimoto, Hiroko Harashima, Taro Yamazaki, Masato Mori, Kei Murayama, Akira Ohtake, Yasushi Okazaki
    PLOS Genetics: Published: January 7, 2016 DOI: 10.1371/journal.pgen.1005679

    邦題:網羅的ゲノム解析によりミトコンドリア病の遺伝的背景の一端を明らかにした

    解説ページへ   原著論文へ

    Monitoring of minimal residual disease in early T-cell precursor acute lymphoblastic leukaemia by next-generation sequencing

    Xiaoqing Pan, Naoki Nariai, Noriko Fukuhara, Sakae Saito, Yukuto Sato, Fumiki Katsuoka, Kaname Kojima, Yoko Kuroki, Inaho Danjoh, Rumiko Saito, Shin Hasegawa, Yoko Okitsu, Aiko Kondo, Yasushi Onishi, Fuji Nagami, Hideyasu Kiyomoto, Atsushi Hozawa, Nobuo Fuse, Masao Nagasaki, Ritsuko Shimizu, Jun Yasuda, Hideo Harigae and Masayuki Yamamoto
    British Journal of Haematology Published online: 29 JAN 2016 DOI: 10.1111/bjh.13948

    邦題:次世代シークエンサーを用いた全ゲノム解析情報による初期前駆T細胞性急性リンパ芽球性白血病治療の効果判定

    解説ページへ   原著論文へ

    Prospect of the future housing and the risk of psychological distress at 1 year after an earthquake disaster

    Naoki Nakaya, Tomohiro Nakamura, Naho Tsuchiya, Akira Narita, Ichiro Tsuji, Atsushi Hozawa and Hiroaki Tomita
    Psychiatry and Clinical Neurosciences, Accepted manuscript online: 11 DEC 2015
    DOI: 10.1111/pcn.12377
    PMID: 26661684

    論文概要:震災1年後の将来の住居の見通しと心理的苦痛リスクの関連

    解説ページへ   原著論文へ

    Periodontitis-associated septic pulmonary embolism caused by Actinomyces species identified by anaerobic culture of bronchoalveolar lavage fluid: a case report

    Shun Endo, Eikan Mishima, Yoichi Takeuchi, Takashi Ohi, Masatsugu Ishida, Masaru Yanai, Hideyasu Kiyomoto, Tasuku Nagasawa and Sadayoshi Ito
    BMC Infectious Diseases 2015, 15:552, Published online: 1 December 2015
    DOI: 10.1186/s12879-015-1286-0
    PMID: 26626753 [PubMed – in process] PMCID: PMC4667511

    論文概要:気管支肺胞洗浄液の嫌気培養により診断されたアクチノマイセスによる歯周炎関連ー敗血症性肺塞栓の1例

    解説ページへ   原著論文へ

    Eczema and Asthma Symptoms among Schoolchildren in Coastal and Inland Areas after the 2011 Great East Japan Earthquake: The ToMMo Child Health Study

    Masako Miyashita, Masahiro Kikuya, Chizuru Yamanaka, Mami Ishikuro, Taku Obara, Yuki Sato, Hirohito Metoki, Naoki Nakaya, Fuji Nagami, Hiroaki Tomita, Hideyasu Kiyomoto, Junichi Sugawara, Atsushi Hozawa, Nobuo Fuse, Yoichi Suzuki, Ichiro Tsuji, Shigeo Kure, Nobuo Yaegashi, Masayuki Yamamoto, Shinichi Kuriyama
    The Tohoku Journal of Experimental Medicine, Vol. 237 (2015) No. 4 December p. 297-305 Published online December 02, 2015
    doi: 10.1620/tjem.237.297

    解説ページへ   原著論文へ

    iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing

    Yumi Yamaguchi-Kabata, Naoki Nariai, Yosuke Kawai, Yukuto Sato, Kaname Kojima, Minoru Tateno, Fumiki Katsuoka, Jun Yasuda, Masayuki Yamamoto, and Masao Nagasaki
    Human Genome Variation 2, Article number: 15050 (2015)
    Published online 26 November 2015
    doi: 10.1038/hgv.2015.50

    論文概要:iJGVD: 全ゲノム解析に基づく日本人ゲノム多様性情報の統合されたデータベース

    解説ページへ    原著論文へ

    Unemployment risk among individuals undergoing medical treatment for chronic diseases

    Naoki Nakaya, Tomohiro Nakamura, Naho Tsuchiya, Ichiro Tsuji, Atsushi Hozawa and Hiroaki Tomita
    Occup Med (Lond) (2015)
    First published online: November 13, 2015
    doi: 10.1093/occmed/kqv159

    論文概要:東日本大震災の被災地の沿岸地域において慢性疾患の有無と無職リスクの関連性を検討した。慢性疾患治療者の無職リスクは高く、心理・身体面が不良な者は慢性疾患治療と無職リスクの有意な関連が示された。

    解説ページへ    原著論文へ

    Inter-individual differences in the oral bacteriome are greater than intra-day fluctuations in individuals

    Yukuto Sato, Junya Yamagishi, Riu Yamashita, Natsuko Shinozaki, Bin Ye, Takuji Yamada, Masayuki Yamamoto, Masao Nagasaki, Akito Tsuboi
    PLOS ONE. 2015, 10(6): e0131607. Published online 2015 June 29.
    doi: 10.1371/journal.pone.0131607
    PMCID: PMC4487993

    論文概要:個人の口腔内のバクテリア叢は比較的安定して存在しており、その日内の変動は個人間の差よりも小さい

    解説ページへ    原著論文へ

    Protocol and Research Perspectives of the ToMMo Child Health Study after the 2011 Great East Japan Earthquake

    Masahiro Kikuya, Masako Miyashita, Chizuru Yamanaka, Mami Ishikuro, Yuki Sato, Taku Obara, Hirohito Metoki, Naoki Nakaya, Fuji Nagami, Hiroaki Tomita, Hideyasu Kiyomoto, Junichi Sugawara, Atsushi Hozawa, Nobuo Fuse, Yoichi Suzuki, Ichiro Tsuji, Shigeo Kure, Nobuo Yaegashi, Masayuki Yamamoto and Shinichi Kuriyama
    The Tohoku Journal of Experimental Medicine, Vol. 236 No. 2 June 2015
    doi: 0.1620/tjem.236.123
    PMID: 26040309

    論文概要:地域子ども長期健康調査の研究デザインと2012年度に岩沼市・亘理町・山元町で実施した調査の結果

    解説ページへ    原著論文へ(J-STAGE)

    The Association Between Medical Treatment of Physical Diseases and Psychological Distress After the Great East Japan Earthquake: The Shichigahama Health Promotion Project.

    Naoki Nakaya, Tomohiro Nakamura, Naho Tsuchiya, Ichiro Tsuji, Atsushi Hozawa and Hiroaki Tomita
    Disaster Medicine and Public Health Preparedness, online: 27 April 2015
    doi: 10.1017/dmp.2015.52
    PMID: 25912962

    論文概要:東日本大震災で甚大な被害を受けた沿岸地域における循環器疾患、がん、高脂血症、肝臓病、腎臓病、糖尿病などの疾患を治療している者と心理的苦痛の関連の検討

    解説ページへ    原著論文へ

    Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population

    Ikuko N Motoike, Mitsuyo Matsumoto, Inaho Danjoh, Masayuki Yamamoto, et al.
    BMC Genomics. 2014, 15: 673.
    doi: 10.1186/1471-2164-15-673
    PMID: 25560536

    論文概要:複数の種類の次世代型シークエンサーによる一塩基置換の読み取りの精度向上について

    解説ページへ    原著論文へ

    An efficient quantitation method of next-generation sequencing libraries by using MiSeq sequencer

    Fumiki Katsuoka, Junji Yokozawa, Kaoru Tsuda, Shin Ito, Xiaoqing Pan, Masao Nagasaki, Jun Yasuda, Masayuki Yamamoto
    Anal Biochem. 2014 Aug 28;466C:27-29.
    doi: 10.1016/j.ab.2014.08.015.
    PMID:25173513

    論文概要:ToMMoで開発した新しいライブラリ定量に関する方法の論文です。ToMMoでは、この新しい定量方法を採用することで、効率の良い安定した全ゲノム解析を実現しています。

    解説ページへ    原著論文へ

    HapMonster: A Statistically Unified Approach for Variant Calling and Haplotyping Based on Phase-Informative Reads

    Kaname Kojima, Naoki Nariai, Takahiro Mimori, Yumi Yamaguchi-Kabata, Yukuto Sato, Yosuke Kawai and Masao Nagasaki
    Lecture Notes in Computer Science Volume 8542, 2014, pp 107-118

    原著論文へ

    SVEM: a Structural Variant Estimation Method using Multi-Mapped Reads on Breakpoints

    Tomohiko Ohtsuki, Naoki Nariai, Kaname Kojima, Takahiro Mimori, Yukuto Sato, Yosuke Kawai, Yumi Yamaguchi-Kabata, Tetsuo Shibuya and Masao Nagasaki
    Lecture Notes in Computer Science Volume 8542, 2014, pp 208-219

    原著論文へ

    A statistical variant calling approach from pedigree information and local haplotyping with phase informative reads

    Kaname Kojima, Naoki Nariai, Takahiro Mimori, Mamoru Takahashi, Yumi Yamaguchi-Kabata, Yukuto Sato, and Masao Nagasaki
    Bioinformatics. 2013 Nov 15;29(22):2835-43.
    doi: 10.1093/bioinformatics/btt503. Epub 2013 Sep 3.
    PMID: 24002111

    原著論文へ

    TIGAR: transcript isoform abundance estimation method with gapped alignment of RNA-Seq data by variational Bayesian inference

    Naoki Nariai, Osamu Hirose, Kaname Kojima and Masao Nagasaki
    Bioinformatics. 2013 Sep 15;29(18):2292-9.
    doi: 10.1093/bioinformatics/btt381. Epub 2013 Jul 2.
    PMID: 23821651

    原著論文へ

    主な査読付き国際学会proceedingsなど
    A Bayesian approach for estimating allele-specific expression from RNA-Seq data with diploid genomes

    Naoki Nariai, Kaname Kojima, Takahiro Mimori, Yosuke Kawai and Masao Nagasaki
    BMC Genomics201617(Suppl 1):2  Published: 11 January 2016
    DOI: 10.1186/s12864-015-2295-5
    Selected articles from the Fourteenth Asia Pacific Bioinformatics Conference (APBC 2016): Genomics

    邦題:RNAシークエンスデータと全ゲノムデータから、アレル特異的な遺伝子発現量を推定するベイズ理論を用いた手法を開発

    解説ページへ   原著論文へ

    HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data

    Naoki Nariai, Kaname Kojima, Sakae Saito, Takahiro Mimori, Yukuto Sato, Yosuke Kawai, Yumi Yamaguchi-Kabata, Jun Yasuda, Masao Nagasaki
    BMC Genomics, 16(Suppl 2):S7 (2015)
    doi: 10.1186/1471-2164-16-S2-S7

    論文概要:HLAの型を全ゲノムシークエンスデータから高精度で推定することができる統計手法の開発とソフトウェアHLA-VBSeqの実装

    原著論文へ

    Estimating copy numbers of alleles from population-scale high-throughput sequencing data

    Takahiro Mimori, Naoki Nariai, Kaname Kojima, Yukuto Sato, Yosuke Kawai, Yumi Yamaguchi-Kabata and Masao Nagasaki
    BMC Bioinformatics, 16(Suppl 1):S4 (2015)
    doi: 10.1186/1471-2105-16-S1-S4

    論文概要:集団の全ゲノムシークエンスデータから、コピー数変異 (CNV) の塩基配列を推定する統計手法の開発と実装

    原著論文へ

    TIGAR2: sensitive and accurate estimation of transcript isoform expression with longer RNA-Seq reads

    Naoki Nariai, Kaname Kojima, Takahiro Mimori, Yukuto Sato, Yosuke Kawai, Yumi Yamaguchi-Kabata and Masao Nagasaki
    BMC Genomics, 15(Suppl 10):S5 (2014)
    doi: 10.1186/1471-2164-15-S10-S5
    PMID: 25109789

    論文概要:既報のTIGARをさらに改良しより長い次世代シークエンサに転写産物の発現量を推定する手法の開発とソフトウェアTIGAR2の実装

    原著論文へ

    SUGAR: graphical user interface-based data refiner for high-throughput DNA sequencing

    Yukuto Sato, Kaname Kojima, Naoki Nariai, Yumi Yamaguchi-Kabata, Yosuke Kawai, Mamoru Takahashi, Takahiro Mimori and Masao Nagasaki
    BMC Genomics. 2014 Aug 8;15:664.
    doi: 10.1186/1471-2164-15-664.
    PMID: 25103311

    論文概要:大量DNAシークエンスデータのクオリティ・コントロールを行うためのグラフィカルユーザーインターフェースソフトウェアSUGAR

    解説ページへ    原著論文へ

    iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data

    Takahiro Mimori, Naoki Nariai, Kaname Kojima, Mamoru Takahashi, Akira Ono, Yukuto Sato, Yumi Yamaguchi-Kabata and Masao Nagasaki
    BMC Syst Biol. 2013;7 Suppl 6:S8.
    doi: 10.1186/1752-0509-7-S6-S8. Epub 2013 Dec 13.
    PMID: 24564972 PMCID: PMC4029547

    原著論文へ

    東北メディカル・メガバンク機構

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