Development of computer software 'GenDis English version' for the diagnosis of genetic diseases.

开发遗传病诊断计算机软件“GenDis英文版”。

• 批准号: 14572145
• 负责人: NARITOMI Kenji
• 金额: $ 1.54万
• 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: 2002
• 资助国家: 日本
• 起止时间: 2002 至 2003
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-14572145/
• 关键词: Genetic diseases; Software; Database; Malformation; Chromosomal aberrations; パソコンソフト

(1)Making a database for genetic diseasesThe huge old data included in UR-DBMS(University of the Ryukyus-Database for malformation syndromes) had been revised mainly through Internet(OMIM) to the end of March 2004. As a result, newest database was accomplished for about 7,900 diseases and/or loci in several files(main UR-DBMS, reference, abstract, cDNA, mutation etc.). Total volume of this UR-DBMS Ver.11 exceeded more than 750 MB.(2)Development of new original software for EnglishThe operating program of my original software 'GenDis', for making a diagnosis of genetic diseases using Japanese-OS computers, was rewrote in English to enable to use it in English-OS computers. This software was newly named as 'Syndrome Finder' to distinguish it from original Japanese 'GenDis'. The data of clinical findings in UR-DBMS Ver.11 were taken into the finding data field of 'Syndrome Finder'. Finally, 'Syndrome Finder' software had an ability to select candidate diseases or syndromes in the order of its probability after inputting patient's full manifestations.English Syndrome Finder was started opening to the public from April of 2003,and presented in 52nd Annual Meeting of American Society of Human Genetics. Syndrome Finder was requested to use from 63 specialized hospitals for genetic clinics in Japan. Much newer 'Syndrome Finder 2' has been opened from April of 2004.

（1）遗传病数据库的建立到2004年3月底为止，主要通过互联网（OMIM）对UR-DBMS（琉球大学畸形综合征数据库）中的大量旧数据进行了修订。结果，在几个文件（主要UR-DBMS、参考文献、摘要、cDNA、突变等）中完成了约7，900种疾病和/或基因座的最新数据库。此UR-DBMS Ver.11的总容量超过750 MB。（2）开发新的英文原版软件为了在日文操作系统的计算机上进行遗传病诊断，将我的原版软件“GenDiss”的操作程序改写成英文，使其能够在英文操作系统的计算机上使用。该软件被新命名为“综合症”，以区别于日本的“GenDiss”。将UR-DBMS Ver.11中的临床结果数据纳入“综合征查找器”的查找数据字段。2003年4月，英文综合征诊断软件开始向公众开放，并在第52届美国人类遗传学会年会上发表。日本遗传诊所要求63家专科医院使用综合征。2004年4月，新推出的《综合症2》问世。

项目成果

Naritomi K: Syndrome Finder 2. (Computer software). (2004)

Naritomi K：Syndrome Finder 2。（计算机软件）。

Naritomi K: "University of the Ryukyus-Database for Malformation Syndromes. Version 10"UR-DBMS V10. (Electric Database ; CD-ROM). (2003)

Naritomi K：“琉球大学畸形综合症数据库。版本 10”UR-DBMS V10。

Naritomi K: Suyndrome Finder. (Computer software). (2003)

成富 K：Suyndrome Finder。

Naritomi K: "University of the Ryukyus-Database for Malformation Syndromes. Version 11"UR-DBMS V10. (Electric Database ; CD-ROM). (2004)

Naritomi K：“琉球大学畸形综合症数据库。版本 11”UR-DBMS V10。

Naritomi K: "Haploinsufficiency of the NSD1 gene causes Sotos syndrome."Nature Genet.. 30. 365-366 (2002)

Naritomi K：“NSD1 基因的单倍体不足导致索托斯综合征。”Nature Genet.. 30. 365-366 (2002)