Landscape of chromosomes and disease with advanced genomic analysis
| Project/Area Number |
25860258
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Human genetics
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| Research Institution | St. Marianna University School of Medicine (2014-2016)
National Research Institute for Child Health and Development (2013) |
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Principal Investigator |
MIGITA Ohsuke 聖マリアンナ医科大学, 医学部, 講師 (20425721)
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| Project Period (FY) |
2013-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | ゲノム / マイクロアレイ / 次世代シーケンサー / 遺伝医療 / 臨床遺伝 |
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| Outline of Final Research Achievements |
The human genome is a complex, dynamic information system. The high throughput new technologies are rapidly evolving, and providing the genome-wide comprehensive chromosome structure information. In this study, we analyzed individuals without obvious abnormality in pregnancy and their new born, and revealed in detail the chromosomal structural variants, especially the copy number change (CNV). Therefore, those chromosomal changes could be maintained and preserved beyond generations. Collecting such benign CNV data becomes the basis for identifying important areas causing disease and disorders in the perinatal period. Furthermore, the CNV analysis helps to understand the mechanism of development diseases with chromosomal abnomalities. Analysis data of chromosomal structural abnormality obtained in this study contributed to both clinical application and basic research of genomic medicine.
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Report
(5 results)
Research Products
(26 results)
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[Journal Article] Human genetic variation database, a reference database of genetic variations in the Japanese population.2016
Author(s)
Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, et al.
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Journal Title
J Hum Genet
Volume: 61
Pages: 547-553
Related Report
Peer Reviewed / Open Access
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[Journal Article] Human genetic variation database, a reference database of genetic variations in the Japanese population.2016
Author(s)
Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, (中略), Matsumoto N, Matsuda F.
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Journal Title
J Hum Genet.
Volume: advance online publication
Issue: 6
Pages: 547-553
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.2015
Author(s)
Ito Y, Maehara K, Kaneki E, Matsuoka K, Sugahara N, Miyata T, Kamura H, Yamaguchi Y, Kono A, Nakabayashi K, Migita O, Higashimoto K, Soejima H, Okamoto A, Nakamura H, Kimura T, Wake N, Taniguchi T, Hata K.
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Journal Title
Gynecol Obstet Invest
Volume: Epub ahead of print
Issue: 4
Pages: 1-6
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Compilation of copy number variants identified in phenotypically normal and parous Japanese women2014
Author(s)
Migita O, Maehara K, Kamura H, Miyakoshi K, Tanaka M, Morokuma S, Fukushima K, Shimamoto T, Saito S, Sago H, Nishihama K, Abe K, Nakabayashi K, Umezawa A, Okamura K, Hata K
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Journal Title
J. Hum. Genet.
Volume: 59
Issue: 6
Pages: 326-331
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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