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

开发用于诊断先天异常和遗传疾病的计算机软件

• 批准号: 12672202
• 负责人: NARITOMI Kenji
• 金额: $ 0.45万
• 依托单位: University of the Ryukyus
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2000
• 资助国家: 日本
• 起止时间: 2000 至 2001
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-12672202/
• 关键词: software; 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

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).

UR-DBMS Ver.6（原始数据库;琉球大学-畸形综合征数据库;在250多个机构中使用，主要是日本的大学医院）主要通过OMIM在2,000年更新为UR-DBMS Ver.7。同年，在商业程序员的协助下，开发了一种新的计算机程序，用于使用UR-DBMS数据诊断遗传病的软件。6更新到版本。7.最新数据显示，7人被纳入程序，并检查了9次修订的实用程序。最后，完成了一个新的原始软件，并命名为“GenDis”。GenDis从2,001年开始向日本UR-DBMS用户开放，GenDis几乎拥有所有人类疾病的所有临床和人类遗传数据（疾病总数：约7,000，涉及新的搜索引擎，总容量约400 MB，由光盘提供）。

项目成果

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)

成富贤治：《先天性畸形综合症及遗传病数据手册第3版》诊断治疗株式会社1-3800（2001年）

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)

Naritomi K 等人：“对人类 13q 染色体的八个倒置重复进行分子细胞遗传学分析，每个倒置重复都包含一个新着丝粒。”《美国人类遗传学杂志》。

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)

Morimoto J、Naritomi K：“近端交感神经伴有粗糙的面部外观、混合性听力损失和慢性肾功能衰竭：新的畸形综合征？”美国医学遗传学杂志。

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)

Naritomi K. 等人：“人染色体 13q 八个倒置重复的分子细胞遗传学分析，每个倒置重复都包含一个新着丝粒”Am，J Hum Genet。

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)

Naritomi K：“对人类 13q 染色体的八个倒置重复进行分子细胞遗传学分析，每个倒置重复都包含一个新着丝粒。”Am J Hum Genet。