Development of computer software 'GenDis English version' for the diagnosis of genetic diseases.
Development of computer software 'GenDis English version' for the diagnosis of genetic diseases.
批准号:
14572145
负责人:
NARITOMI Kenji
金额:
$1.54万
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
项目状态:
已结题
起止时间:
2002 至 2003
中文摘要
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英文摘要
(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.
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Naritomi K: Syndrome Finder 2. (Computer software). (2004)
Naritomi K:Syndrome Finder 2。(计算机软件)。
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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。
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Naritomi K: Suyndrome Finder. (Computer software). (2003)
成富 K:Suyndrome Finder。
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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。
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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)
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共 16 条
Development of personalized diagnosis systems using combination of a supporting program for clinical diagnosis of genetic diseases with HRM analysis for molecular diagnosis
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批准号:23591506
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项目类别:Grant-in-Aid for Scientific Research (C)
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资助金额:$3.24万
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财政年份:2011
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负责人:NARITOMI Kenji
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依托单位:
Development of a computer software for the diagnosis of congenital anomalies and genetic diseases
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批准号:12672202
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项目类别:Grant-in-Aid for Scientific Research (C)
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资助金额:$0.45万
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财政年份:2000
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负责人:NARITOMI Kenji
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依托单位:
海外基金