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RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

机译：RD-Connect：连接数据库，注册表，生物库和临床生物信息学的罕见病研究平台

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International audience

机译：国际观众

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作者
Thompson, Rachel; Johnston, Louise; Taruscio, Domenica; Monaco, Lucia; Béroud, Christophe; Gut, Ivo G; Hansson, Mats G; 't Hoen, Peter-Bram A; Patrinos, George P; Dawkins, Hugh; Ensini, Monica; Zatloukal, Kurt; Koubi, David; Heslop, Emma; Paschall, Justin E; Posada, Manuel; Robinson, Peter N; Bushby, Kate; Lochmuller, Hanns; Gut, Ivo G.; Hansson, Mats G.; ’t Hoen, Peter-Bram A.; Patrinos, George P.; Paschall, Justin E.; Robinson, Peter N.;
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1. RD-connect: An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research [J] . ThompsonR., JohnstonL., TaruscioD., Journal of general internal medicine . 2014,第Suppla3期

机译：RD-connect：一个集成平台，可连接数据库，注册表，生物库和临床生物信息学，用于罕见病研究
2. The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers [J] . Gainotti Sabina, Torreri Paola, Wang Chiuhui Mary, European journal of human genetics: EJHG . 2018,第5a5期

机译：RD-Connect Registry＆Biobank Finder：一种用于共享聚合数据和稀有疾病研究人员之间的元数据的工具
3. RD-Connect: Data sharing and analysis for rare disease research within the integrated platform and through GA4GH beacon and matchmaker exchange [J] . Roos A., Beltran S., Piscia D., Neuromuscular disorders: NMD . 2016,第Suppla2期

机译：RD-Connect：在集成平台内以及通过GA4GH信标和媒人交换来进行罕见病研究的数据共享和分析
4. Data Integration between Swedish National Clinical Health Registries and Biobanks Using an Availability System [C] . Ola Spjuth, Jani Heikkinen, Jan-Eric Litton, International conference on data integration in the life sciences . 2014

机译：使用可用性系统在瑞典国家临床卫生注册中心和生物库之间进行数据集成
5. Imputation based methods for incidence rate estimation of rare diseases from federal and state mortality data supplemented with disease registry data [D] . Jalal, Kabir 2015

机译：基于归因法的联邦和州死亡率数据与疾病登记数据相结合的罕见病发病率估算方法
6. RD-Connect: An Integrated Platform Connecting Databases Registries Biobanks and Clinical Bioinformatics for Rare Disease Research [O] . Rachel Thompson, Louise Johnston, Domenica Taruscio, 2014

机译：RD-Connect：连接数据库注册表生物库和临床生物信息学的罕见病研究平台
7. RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research [O] . Thompson, Rachel, Johnston, Louise, Taruscio, Domenica, 2014

机译：RD-Connect：连接数据库，注册表，生物库和临床生物信息学的罕见病研究平台

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

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