Development of an integrated data-processing environment for disease-related genome analysis
Project/Area Number |
16K07222
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
System genome science
|
Research Institution | Osaka University |
Principal Investigator |
NAKAYA Akihiro 大阪大学, 医学系研究科, 特任教授(常勤) (60301149)
|
Co-Investigator(Kenkyū-buntansha) |
岡崎 敦子 (今井敦子 / 今井 敦子) 大阪大学, 医学系研究科, 特任助教 (70761691)
菊地 正隆 大阪大学, 医学系研究科, 特任講師(常勤) (90722538)
|
Research Collaborator |
KOBAYASHI kaori
|
Project Period (FY) |
2016-04-01 – 2019-03-31
|
Project Status |
Completed (Fiscal Year 2018)
|
Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2018: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2017: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2016: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
|
Keywords | ゲノム解析 / 次世代シーケンサ / マイクロアレイ / ヒト疾患関連変異 / 解析ソフトウェア / データベース / シーケンサ / ゲノム解析技術 / 連鎖不平衡 / 解析アプリ |
Outline of Final Research Achievements |
We developed a data processing system for disease-related genome analysis. We carried out whole-exome sequencing (WES) of ten Japanese individuals using the DNA samples provided by the 1000 Genomes Project. We processed the sequencing results using the analysis pipeline and stored the obtained variants in a database developed for this study. The database also includes the variants in the approximately one hundred Japanese individuals obtained by processing the results of WES provided by the 1000 Genomes Project. We developed an application program that evaluates how the chromosomal regions with variants distribute in a population. We also developed a genome scanning method that extracts the regions where variants satisfying a given condition are found with high frequency and then generates block diagrams representing the regions and their mutual relationships. Using the database and programs developed, we carried out analysis of clinical data in collaboration with clinical researchers.
|
Academic Significance and Societal Importance of the Research Achievements |
独自に開発したソフトウェアとデータベースを用いて解析を行うことができる環境を整備した。コントロール検体群のゲノム情報の整備を行った。ヒト疾患に関する実データの解析を行った。
|
Report
(4 results)
Research Products
(25 results)
-
-
[Journal Article] Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.2019
Author(s)
Imai-Okazaki A, Kishita Y, Kohda M, Mizuno Y, Fushimi T, Matsunaga A, Yatsuka Y, Hirata T, Harashima H, Takeda A, Nakaya A, Sakata Y, Kogaki S, Ohtake A, Murayama K, Okazaki Y.
-
Journal Title
Int J Cardiol
Volume: 279
Pages: 115-121
DOI
Related Report
Peer Reviewed / Open Access
-
-
[Journal Article] Identification of genetic risk factors of aggressive periodontitis using genome-wide association studies in association with those of chronic periodontitis2018
Author(s)
Masumoto R, Kitagaki J, Fujihara C, Matsumoto M, Miyauchi S, Asano Y, Imai A, Kobayashi K, Nakaya A, Yamashita M, Yamada S, Kitamura M, and Murakami S
-
Journal Title
Journal of Periodontal Research
Volume: 54
Pages: 199-206
Related Report
Peer Reviewed
-
-
[Journal Article] Barth syndrome: Different approaches to diagnosis2018
Author(s)
Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, & Okazaki Y
-
Journal Title
Journal of Pediatrics
Volume: 193
Pages: 256-260
DOI
Related Report
Peer Reviewed / Open Access
-
-
[Journal Article] Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein2017
Author(s)
Yamamoto S, Kaimori J, Yoshimura T, Namba T, Imai A, Kobayashi K, Imamura R, Ichimaru N, Kato K, Nakaya A, Takahara S, & Isaka Y
-
Journal Title
Nephrology Dialysis Transplantation
Volume: 32
Issue: 12
Pages: 2010-2007
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
[Journal Article] Identification of core gene networks and hub genes associated with progression of nonalcoholic fatty liver disease by RNA sequencing2017
Author(s)
Hotta K, Kikuchi M, Kitamoto T, Kitamoto A, Ogawa Y, Honda Y, Kessoku T, Kobayashi K, Yoneda, M, Imajo K, Tomeno W, Nakaya A, Suzuki Y, Saito S, and Nakajima A
-
Journal Title
Hepatology Research
Volume: 印刷中
Issue: 13
Pages: 1445-1448
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
-
[Journal Article] Differential gene expression profiles in neurons generated from lymphoblastoid B-cell line-derived iPS cells from monozygotic twin cases with treatment-resistant schizophrenia and discordant responses to clozapine.2017
Author(s)
Nakazawa T, Kikuchi M, Ishikawa M, Yamamori H, Nagayasu K, Matsumoto T, Fujimoto M, Yasuda Y, Fujiwara M, Okada S, Matsumura K, Kasai A, Hayata-Takano A, Shintani N, Numata S, Takuma K, Akamatsu W, Okano H, Nakaya A, Hashimoto H, Hashimoto R.
-
Journal Title
Schizophr Res.
Volume: 181
Pages: 75-82
DOI
NAID
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
-
[Journal Article] Effect of Clozapine on DNA Methylation in Peripheral Leukocytes from Patients with Treatment-Resistant Schizophrenia.2017
Author(s)
Kinoshita M, Numata S, Tajima A, Yamamori H, Yasuda Y, Fujimoto M, Watanabe S, Umehara H, Shimodera S, Nakazawa T, Kikuchi M, Nakaya A, Hashimoto H, Imoto I, Hashimoto R, Ohmori T.
-
Journal Title
Int J Mol Sci.
Volume: 18
Issue: 3
Pages: 632-632
DOI
NAID
Related Report
Peer Reviewed / Open Access
-
[Journal Article] Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy2016
Author(s)
Imai A, Kishita Y, Nakayama Y, Fujita S, Futatani T, Kohda M, Yatsuka Y, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y
-
Journal Title
International Journal of Cardiology
Volume: 221
Pages: 446-449
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
-
-
-
-
-
-
-
[Presentation] Genetic analysis of mitochondrial disorder2017
Author(s)
Kohda M, Kishita Y, Mizuno Y, Imai A, Nakaya A, Hirata T, Yatsuka Y, Borna NN, Harashima H, Murayama K, Ohtake A, & Okazaki Y
Organizer
第5回生命医薬情報学連合大会
Related Report
-
[Presentation] ミトコンドリア病を疑う集団におけるゲノム解析2017
Author(s)
神田将和, 木下善人, 水野洋介, 今井敦子, 中谷明弘, 平田智子, 八塚由紀子, Nurun N. Borna, 原嶋宏子, 村山圭, 大竹明, 岡崎康司
Organizer
NGS現場の会第五回研究会
Related Report
-
-
-
-
-