2001 Fiscal Year Final Research Report Summary
Development of a computer software for the diagnosis of congenital anomalies and genetic diseases
| Project/Area Number |
12672202
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | University of the Ryukyus |
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Principal Investigator |
NARITOMI Kenji University of the ryukyus, Medicine, Professor, 医学部, 教授 (20101446)
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| Project Period (FY) |
2000 – 2001
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| Keywords | software / diagnosis / genetic disease / malformation syndrome / chromosomal aberrations / neurological disease / genetic information / reference information |
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| Research Abstract |
UR-DBMS Ver.6 (an original database; University of the Ryukyus-database for malformation syndrome; utilized in more than 250 institutions, mainly Japanese university hospitals) was updated mainly through OMIM in the year 2,000 to UR-DBMS Ver.7. In the same year, a new computer program for a software to diagnose genetic diseases using the data from UR-DBMS was developed with an assistance of programmers in commercial basis.
In the second year, 2,001, the data of UR-DBMS Ver. 6 was updated to Ver. 7. And the newest data of Ver. 7 were taken into the program, and checked the utility for 9 times revisions. Finally, a new original software was acomplished, and named as "GenDis". GenDis was started to be opened soon from 2,001 to Japanese UR-DBMS users.
GenDis has almost all clinical and human genetic data of all human diseases (total disease number: about 7,000, involved a new search engine, total volume about 400 MB, provided by a CD-ROM).
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