Evaluation of quality and usefullness of genetics testing-clinical application of next generation sequencer.
Project/Area Number |
24590694
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Laboratory medicine
|
Research Institution | Kyoto University |
Principal Investigator |
KOSUGI SHINJI 京都大学, 医学(系)研究科(研究院), 教授 (50252432)
|
Co-Investigator(Renkei-kenkyūsha) |
KOSAKI Kenjiro 慶應義塾大学, 医学部, 教授 (30234743)
SAKURAI Akihiro 札幌医科大学, 医学部, 教授 (70262706)
SAKAI Yoshiharu 京都大学, 大学院医学研究科, 教授 (60273455)
SEKINE Akihiro 京都大学, 大学院医学研究科, 教授 (30425631)
TOI Masakazu 京都大学, 大学院医学研究科, 教授 (10207516)
|
Project Period (FY) |
2012-04-01 – 2015-03-31
|
Project Status |
Completed (Fiscal Year 2014)
|
Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2012: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
|
Keywords | 遺伝子検査学 |
Outline of Final Research Achievements |
A guideline was made for quality assurance of molecular genetic testing in Japan. Questuinaire survey on specialist of genetics in Japan was done as for incidental finindings from next generation sequencer. More than 90% were positive for necesssity of opt-out chopice and genetic couseling.
|
Report
(4 results)
Research Products
(68 results)
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[Journal Article] Central blood pressure relates more strongly to retinal arteriolar narrowing than brachial blood pressure: the Nagahama Study.2015
Author(s)
Kumagai K1, Tabara Y, Yamashiro K, Miyake M, Akagi-Kurashige Y, Oishi M, Yoshikawa M, Kimura Y, Tsujikawa A, Takahashi Y, Setoh K, Kawaguchi T, Terao C, Yamada R, Kosugi S, Sekine A, Nakayama T, Matsuda F, Yoshimura N; Nagahama Study group
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Journal Title
J Hypertens
Volume: 33
Issue: 2
Pages: 323-9
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case2014
Author(s)
Hibi Y, Ohye T, Ogawa K, Shimizu Y, Shibata M, Kagawa C, Mizuno Y, Uchino S, Kosugi S, Kurahashi H, Iwase K
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Journal Title
Surg Today
Volume: 44
Issue: 11
Pages: 2195-2200
DOI
Related Report
Peer Reviewed
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[Journal Article] Gastroesophageal reflux disease symptoms and dietary behaviors are significant correlates of short sleep duration in the general population: The Nagahama Study.2014
Author(s)
Murase, K., Tabara, Y., Takahashi, Y., Muro, S., Yamada, R., Setoh, K., Kawaguchi, T., Kadotani, H., Kosugi, S., Sekine, A., Nakayama, T., Mishima, M., Chiba, T., Chin, K., Matsuda, F
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Journal Title
Sleep
Volume: 37
Issue: 11
Pages: 1809-15
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] A genome-wide association study of serum levels of prostate specific antigen in the Japanese population.2014
Author(s)
Chikashi Terao, Naoki Terada, Keitaro Matsuo, Takahisa Kawaguchi, Koji Yoshimura, Norio Hayashi, Masakazu Shimizu, Norihito Soga, Meiko Takahashi, Nagahama Cohort Study Group, Yoshihiko Kotoura, Ryo Yamada, Osamu Ogawa, Fumihiko Matsuda.
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Journal Title
J Med Genet
Volume: 51
Issue: 8
Pages: 530-536
DOI
Related Report
Peer Reviewed
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[Journal Article] ffects of smoking and shared epitope on the production of anti-citrullinated peptide antibody in a Japanese adultpopulation.2014
Author(s)
Terao C, Ohmura K, Ikari K, Kawaguchi T, Takahashi M, Setoh K, Nakayama T,Kosugi S, Sekine A, Tabara Y, Taniguchi A, Momohara S, Yamanaka H, Yamada R,Matsuda F, Mimori T; Nagahama Study Group
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Journal Title
Arthritis Care Res (Hoboken)
Volume: 66
Issue: 12
Pages: 1818-27
DOI
Related Report
Peer Reviewed
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[Journal Article] An association between anti-nuclear antibodies and HLA class II locus and heterogeneous characteristics of staining patterns: The Nagahama Study.2014
Author(s)
Terao C, Ohmura K, Yamada R, Kawaguchi T, Shimizu M, Tabara Y, Takahashi M, Setoh K, Nakayama T, Kosugi S, Sekine A, Matsuda F, Tsuneyo Mimori T on behalf of the Nagahama Study Group.
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Journal Title
Arthritis Rheumatol.
Volume: 66
Issue: 3_suppl
Pages: 3395-403
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Comprehensive replication of the relationship between myopia-related genes and refractive errors in a large Japanese cohort.2014
Author(s)
Yoshikawa M, Yamashiro K, Miyake M, Oishi M, Akagi-Kurashige Y, Kumagai K, Nakata I, Nakanishi H2, Oishi A1, Gotoh N2, Yamada R3, Matsuda F3, Yoshimura N1; Nagahama Study Group.
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Journal Title
Invest Ophthalmol Vis Sci
Volume: 55
Issue: 11
Pages: 7343-54
DOI
Related Report
Peer Reviewed
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[Journal Article] Airflow limitation in smokers is associated with arterial stiffness: The nagahama study2014
Author(s)
Tabara, Y., Muro, S., Takahashi, Y., Setoh, K., Kawaguchi, T., Terao, C., Yamada, R.,. . . Nagahama Study Group
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Journal Title
Atherosclerosis
Volume: 232
Issue: 1
Pages: 59-64
DOI
Related Report
Peer Reviewed
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[Journal Article] High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients.2013
Author(s)
Tsuneo Imai, M.D., Shinya Uchino, M.D, Takahiro Okamoto, M.D., Shinichi Suzuki, M.D., Shinji Kosugi, M.D., Toyone Kikumori, M.D., Akihiro Sakukrai, M.D.
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Journal Title
European Journal of Endocrinology
Volume: 168(5)
Issue: 5
Pages: 683-637
DOI
Related Report
Peer Reviewed
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[Journal Article] Increased aortic wave reflection and smaller pulse pressure amplification in smokers and passive smokers confirmed by urinary cotinine levels: the Nagahama Study.2013
Author(s)
Yasuharu Tabara, Yoshimitsu Takahashi, Kazuya Setoh, Shigeo Muro, Takahisa Kawaguchi, Chikashi Terao, Shinji Kosugi, Akihiro Sekine, Ryo Yamada, Michiaki Mishima, Takeo Nakayama, and Fumihiko Matsuda, on behalf of the Nagahama Study Group
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Journal Title
International Journal of Cardiology
Volume: 168(3)
Issue: 3
Pages: 2673-2677
DOI
NAID
Related Report
Peer Reviewed
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[Journal Article] Mastication and risk for diabetes in a Japanese population: a cross-sectional study.2013
Author(s)
Yamazaki T, Yamori M, Asai K, Nakano-Araki I, Yamaguchi A, Takahashi K, Sekine A, Matsuda F, Kosugi S, Nakayama T, Inagaki N, Bessho K; Nagahama Study Collaboration Group.
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Journal Title
PLoS One.
Volume: 8
Issue: 6
Pages: e64113-e64113
DOI
Related Report
Peer Reviewed
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[Journal Article] Association of longer QT interval with arterial waveform and lower pulse pressure amplification: the Nagahama Study.2013
Author(s)
Tabara Y, Takahashi Y, Kohara K, Setoh K, Kawaguchi T, Terao C, Igase M, Yamada R, Kosugi S, Sekine A, Miki T, Nakayama T, Matsuda F; Nagahama Study Group.
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Journal Title
Am J Hypertens
Volume: 26
Issue: 8
Pages: 973-980
DOI
NAID
Related Report
Peer Reviewed
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[Journal Article] Multiple Endocrine Neoplasia Type 1in Japan : Establishment and Analysis of a Multicenter Database2012
Author(s)
Sakurai, Akihiro ; Suzuki, Shinichi ; Kosugi, Shinji ; Okamoto, Takahiro ; Uchino, Shinya ; Miya, Akihiro ; Imai, Tsuneo ; Kaji, Hiroshi ; Komoto, Izumi ; Miura, Daishu ; Yamada, Masanobu ; Uruno, Takashi ; Horiuchi, Kiyomi
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Journal Title
European Review for Medical and Pharmacological Sciences
Volume: 76(4)
Issue: 4
Pages: 533-539
DOI
Related Report
Peer Reviewed
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[Journal Article] Clinical features of insulinoma in patients with multiple endocrine neoplasia type 1: analysis of the database of the MEN Consortium of Japan2012
Author(s)
A Sakurai, M Yamazaki, S Suzuki, T Fukushima, T Imai, T Kikumori, T Okamoto, K Horiuchi, S Uchino, S Kosugi, M Yamada, et al.
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Journal Title
Endocrine Journal
Volume: 59
Issue: 10
Pages: 859-866
DOI
NAID
ISSN
0918-8959, 1348-4540
Related Report
Peer Reviewed
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[Presentation] 医療倫理について2015
Author(s)
小杉眞司
Organizer
第59回日本リウマチ学会総会・学術集会
Place of Presentation
名古屋国際会議場
Year and Date
2015-04-24
Related Report
Invited
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