2013 Fiscal Year Final Research Report
Development of genotype-phenotype prediction method for channelopathy
| Project/Area Number |
24790336
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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 | Hamamatsu University School of Medicine |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
NISHIO Takuhiro 浜松医科大学, 医学部, 准教授 (90172626)
KANEKO Sunao 湊病院, 北東北てんかんセンター, センター長 (40106852)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Keywords | 遺伝子型-表現型 / 機械学習法 / SCN1A |
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| Research Abstract |
We described a computational model for phenotype prediction of SCN1A-related epilepsies involving the Machine-learning approaches (such as Support vector machines, Random Forest) that were trained some predicting factors obtained by data-mining analysis among the databases. Our models show high accuracy, especially, the prediction models include IE, P and HP of physicochemical property as predicting factor. Our findings indicate the possibility of phenotype prediction for entirely new missense mutations by an application of the physico-chemical properties of amino acid residues.
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[Journal Article] A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)2013
Author(s)
②Yamada J, Yoshida S, Zhu G, Okada M, Hirose S, Shiba Y, Migita K, Mori F, Sugawara T, Chen L, Liu F, Yoshida S, Ueno S, Kaneko S
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Journal Title
Epilepsy Res
Volume: 107
Pages: 127-137
DOI
Peer Reviewed
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[Journal Article] Superoxide dismutase 2 Val16Ala polymorphism is a risk factor for the valproic acid - related elevation of serum aminotransferases2012
Author(s)
③Saruwatari J, Deguchi M, Yoshimori Y, Noai M, Yoshida S, Ogusu N, Oniki K, Yoshida S., Yasui,. Furukori N, Kaneko S, Ishitsu T, Nakagawa K
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Journal Title
Epilepsy Res
Volume: 99
Pages: 183-186
DOI
Peer Reviewed
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