基因组和遗传疾病生物库

Q2 Medicine
C. Fusco, L. Micale, M. Pellico, E. V. D’Addetta, B. Augello, B. Mandriani, P. Nittis, D. Cocciadiferro, Natascia Malerba, M. Sacco, L. Zelante, G. Merla
{"title":"基因组和遗传疾病生物库","authors":"C. Fusco, L. Micale, M. Pellico, E. V. D’Addetta, B. Augello, B. Mandriani, P. Nittis, D. Cocciadiferro, Natascia Malerba, M. Sacco, L. Zelante, G. Merla","doi":"10.5334/OJB.AG","DOIUrl":null,"url":null,"abstract":"The Genomic and Genetic Disorders Biobank (GGDB, formerly Genomic Disorders Biobank) was established in 2006 as an internal bioresource supported by own database, to collect and store biospecimens from genomic-disorder (e.g. microdeletion and duplication syndromes) affected individuals. Since 2009 the Bioresource has joined the Telethon Network of Genetic Biobanks and has expanded the collection to include also genetic mendelian diseases. The GGDB gathers wholly annotated clinical and longitudinal data and biological samples from affected and healthy donors, according to standard ethical principles. Biospecimens are available to the international scientific community for research projects in the field of the pathologies collected and stored in GGDB.","PeriodicalId":36769,"journal":{"name":"Open Journal of Bioresources","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2015-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Genomic and Genetic Disorders Biobank\",\"authors\":\"C. Fusco, L. Micale, M. Pellico, E. V. D’Addetta, B. Augello, B. Mandriani, P. Nittis, D. Cocciadiferro, Natascia Malerba, M. Sacco, L. Zelante, G. Merla\",\"doi\":\"10.5334/OJB.AG\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The Genomic and Genetic Disorders Biobank (GGDB, formerly Genomic Disorders Biobank) was established in 2006 as an internal bioresource supported by own database, to collect and store biospecimens from genomic-disorder (e.g. microdeletion and duplication syndromes) affected individuals. Since 2009 the Bioresource has joined the Telethon Network of Genetic Biobanks and has expanded the collection to include also genetic mendelian diseases. The GGDB gathers wholly annotated clinical and longitudinal data and biological samples from affected and healthy donors, according to standard ethical principles. Biospecimens are available to the international scientific community for research projects in the field of the pathologies collected and stored in GGDB.\",\"PeriodicalId\":36769,\"journal\":{\"name\":\"Open Journal of Bioresources\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2015-03-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Open Journal of Bioresources\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5334/OJB.AG\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Open Journal of Bioresources","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5334/OJB.AG","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 1

摘要

基因组和遗传疾病生物库(GGDB,前身为基因组疾病生物库)成立于2006年,是由自己的数据库支持的内部生物资源,用于收集和存储受基因组疾病(如微缺失和重复综合征)影响的个体的生物标本。自2009年以来,生物资源已经加入了遗传生物银行的Telethon网络,并扩大了收集范围,包括遗传孟德尔疾病。GGDB根据标准的道德原则,从受影响的和健康的捐赠者处收集完整注释的临床和纵向数据以及生物样本。生物标本可提供给国际科学界用于病理领域的研究项目,这些生物标本收集并储存在GGDB中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genomic and Genetic Disorders Biobank
The Genomic and Genetic Disorders Biobank (GGDB, formerly Genomic Disorders Biobank) was established in 2006 as an internal bioresource supported by own database, to collect and store biospecimens from genomic-disorder (e.g. microdeletion and duplication syndromes) affected individuals. Since 2009 the Bioresource has joined the Telethon Network of Genetic Biobanks and has expanded the collection to include also genetic mendelian diseases. The GGDB gathers wholly annotated clinical and longitudinal data and biological samples from affected and healthy donors, according to standard ethical principles. Biospecimens are available to the international scientific community for research projects in the field of the pathologies collected and stored in GGDB.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Open Journal of Bioresources
Open Journal of Bioresources Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (miscellaneous)
自引率
0.00%
发文量
0
审稿时长
14 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信