Development of Integrated Annotation Workflows for Human Whole Genome Sequencing
Project/Area Number |
25430183
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
System genome science
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Research Institution | Nagasaki University |
Principal Investigator |
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Co-Investigator(Renkei-kenkyūsha) |
YOSHIURA Koh-ihiro 長崎大学, 原爆後障害医療研究所, 教授 (00304931)
KATAYAMA Toshiaki 情報, システム研究機構DBCLS, 助教 (60396869)
|
Project Period (FY) |
2013-04-01 – 2016-03-31
|
Project Status |
Completed (Fiscal Year 2015)
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Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
|
Keywords | ヒトゲノム / バイオインフォマティクス / 次世代シークエンサー / ワークフロー / データベース生物学 / Ruby / TogoWS / ゲノム / REST API / UCSCゲノムデータベース |
Outline of Final Research Achievements |
This study aims to build workflows for finding disease causing mutations using whole genome sequencing data. For the goal, the primary researcher extended TogoWS to support the UCSC genome database, several open-source tools, the Bio-Virtuoso Docker containers. Built workflows were applied for whole genome dataset of 12 individuals.
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Report
(4 results)
Research Products
(33 results)
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[Journal Article] Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.2016
Author(s)
Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N.
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Journal Title
Scientific Reports
Volume: 6
Issue: 1
Pages: 22985-22985
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders2015
Author(s)
Yamamoto T, Mishima H, Mizukami H, Fukahori Y, Umehara T, Murase T, Kobayashi M, Mori S, Nagai T, Fukunaga T, Yamaguchi S, Yoshiura K, Ikematsu K
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Journal Title
Molecular Genetics and Metabolism Report
Volume: 5
Pages: 26-32
DOI
NAID
Related Report
Peer Reviewed
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[Journal Article] Germline mutations causing familial lung cancer.2015
Author(s)
Tomoshige K, Matsumoto K, Tsuchiya T, Oikawa M, Miyazaki T, Yamasaki N, Mishima H, Kinoshita A, Kubo T, Fukushima K, Yoshiura K, Nagayasu T.
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Journal Title
Journal of Human Genetics
Volume: 60
Issue: 10
Pages: 597-603
DOI
Related Report
Peer Reviewed
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[Journal Article] Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency2015
Author(s)
Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, Nakazawa Y, Mishima H, Takahashi K, Kondo O, Imai K, Morio T, Ohara O,et al
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Journal Title
Clin Immunol
Volume: 160
Issue: 2
Pages: 255-260
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US.2014
Author(s)
Abe S, Miura K, Kinoshita A, Mishima H, Miura S, Yamasaki K, Hasegawa Y, Higashijima A, Jo O, Yoshida A, Kaneuchi M, Yoshiura K, Masuzaki H.
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Journal Title
Journal of Human Genetics
Volume: 59 (5)
Issue: 5
Pages: 251-255
DOI
Related Report
Peer Reviewed
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[Journal Article] Predominantly placenta-expressed mRNAs in maternal plasma as predictive markers for twin-twin transfusion syndrome2014
Author(s)
Miura K, Higashijima A, Miura S, Mishima H, Yamasaki K, Abe S, Hasegawa Y, Kaneuchi M, Yoshida A, Kinoshita A, Yoshiura KI, Masuzaki H.
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Journal Title
Prenatal Diagnosis
Volume: 34
Issue: 4
Pages: 345-349
DOI
Related Report
Peer Reviewed
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