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Development of a computer software for the diagnosis of congenital anomalies and genetic diseases

Research Project

Project/Area Number 12672202
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Human genetics
Research InstitutionUniversity of the Ryukyus

Principal Investigator

NARITOMI Kenji  University of the ryukyus, Medicine, Professor, 医学部, 教授 (20101446)

Project Period (FY) 2000 – 2001
Project Status Completed (Fiscal Year 2001)
Budget Amount *help
¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 2001: ¥700,000 (Direct Cost: ¥700,000)
Keywordssoftware / diagnosis / genetic disease / malformation syndrome / chromosomal aberrations / neurological disease / genetic information / reference information / パソコンソフト / データベース
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).

Report

(3 results)
  • 2001 Annual Research Report   Final Research Report Summary
  • 2000 Annual Research Report
  • Research Products

    (16 results)

All Other

All Publications (16 results)

  • [Publications] Naritomi K et al.: "Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere"Am J Hum Genet. 66. 1794-1806 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Morimoto J: "Proximal symphalangism with coarse facial appearance, mixed hearing loss, and chronic renal failure : New malformation syndrome?"Am J Med Genet. 98. 269-272 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] 成富研二: "先天性奇形症候群および遺伝性疾患データブック.改訂第3版"診断と治療社. 1-3294 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] 成富研二: "遺伝性疾患および奇形症候群診断補助ソフトGenDis."診断と治療社. 1-120 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Naritomi K. et al.: "Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere"Am, J Hum Genet. 66. 1794-1806 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Morimoto J., Naritomi K.: "Proximal symphalangism with coarse facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome?"Am. J. Med. Genet.. 98. 269-272 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Naritomi K.: "Databook for congenital malformation syndromes and genetic diseases. Revised version 3."Shindann to Chiryou-sha, Tokyo. (1-3)294 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Naritomi K.: "A software for diagnosis of genetic diseases and malformation syndromes, GenDis."Shindann to Chiryou-sha, Tokyo. 1-120 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Naritomi K et al.: "Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere."American Journal of Human Genetic. 66. 1794-1806 (2000)

    • Related Report
      2001 Annual Research Report
  • [Publications] Morimoto J, Naritomi K: "Proximal symphalangism with coarse facial appearance, mixed hearing loss, and chronic renal failure : New malformation syndrome ?"American Journal of Medical Genetics. 98. 269-272 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 成富研二: "先天性奇形症候群および遺伝性疾患データブック.改訂第3版"診断と治療社. 1-3294 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 成富研二: "遺伝性疾患および奇形症候群診断補助ソフトGenDis."診断と治療社. 1-120 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Naritomi K: "Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere."Am J Hum Genet. 66. 1794-1806 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Naritomi K: "An infant of agnathia, situs inversus,and no brain malformation."Am J Hum Genet. 67. 129 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] 成富研二: "心女性医学体系 遺伝の基礎と臨床.III.多因子遺伝."中山書店. 247-258 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] 成富研二: "先天奇形症候群および遺伝性疾患データブック第3版"診断と治療社. 1-3800 (2001)

    • Related Report
      2000 Annual Research Report

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Published: 2001-04-01   Modified: 2016-04-21  

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