2003 Fiscal Year Final Research Report Summary
Development of computer software 'GenDis English version' for the diagnosis of genetic diseases.
| Project/Area Number |
14572145
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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, Department of Medical Genetics, Professor, 医学部, 教授 (20101446)
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| Project Period (FY) |
2002 – 2003
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| Keywords | Genetic diseases / Software / Database / Malformation / Chromosomal aberrations |
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| Research Abstract |
(1)Making a database for genetic diseases
The 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 English
The 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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[Publications] Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita H, Kinoshita A, Mizuguchi T, Yoshiura K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N: "Haploinsufficiency of the NSD1 gene causes Sotos syndrome."Nature Genet.. 30. 365-366 (2002)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K: "Sotos syndrome and haploinsufficiency of NSD1 : clinical features of intragenic mutations and submicroscopic deletions."J Med Genet. 40(4). 285-289 (2003)
Description
「研究成果報告書概要(欧文)」より
