• G3_845459
  • 22.4MB
  • zip
  • 0
  • VIP专享
  • 0
  • 2022-04-02 03:41
欧洲生物黑客马拉松2019 : 该存储库供2019年11月在巴黎举办的BioHackathon的参与者使用,以共享想法,创建问题,管理项目,发布材料,创建代码等。 请求访问此仓库 可以通过gitter通道请求对此存储库的访问 ,包括您的GitHub用户名或以下GitHub中的。 专案 (按项目编号排序) :罕见疾病的疾病和途径图 :副本编号变更信标 :使用Galaxy和Carpentries培训材料可扩展地交付生命科学领域的FAIR培训 :走向无缝的Galaxy和InterMine集成:增强的区域分析 :文本挖掘和语义Web技术 :生物化学领域学术出版物的知识图 项目14 :全功能:实时监控计算工作流 项目15 :实施Orphanet和Orphadata的生物模式 项目22 :RO形状轮廓,BrAPI和生物化学形状验证 项目25 :根据ELIXIR准则设计软件管理计划
# Implementation of Bioschema for Orphanet and Orphadata **Project Number:** 15 ## Orphanet DEV environment links (not public, need VPN) Nb: JSON-LD is displayed in the page to show it (=> will be put into script tags obviously) Nb: real implementation will need a new constructor within the framework engine (to optimize integration) Nb: it works (=> possible to search different drugs, tradename, genes, diseases...) Nb: we provide permalinks to jsonplayground to visualize implementation Tradename example ( JSON PLAYGROUND ( Drugs example ( JSON PLAYGROUND ( Gene example ( JSON PLAYGROUND ( Disease example ( JSON PLAYGROUND ( Disease HPO annotations example ( JSON PLAYGROUND ( ## Docker image of Orphadata's FAIRdatapoint done and running ! Giving a machine readable access to Orphadata's datasets Need a bit more look&feel customisation ( ## Research area alignment - Elxir Core Data Resources Rare disease Elixir Communities Federated Data ## Team **Submitter:** Marc Hanauer ### Proponent(s) - Marc Hanauer ### Lead(s) - Marc Hanauer David Lagorce ## Background information --- Orphanet is a website dedicated to rare diseases, providing several kind of information such nomenclature, classifications, textual information, disorders/genes relations and also dedicated resources in the field (Experts centres, Diagnostic tests, clinical trials, orphandrugs, registries and biobanks, supports groups etc.) for more than 40 countries. The site has a huge audience, around 2 million unique visitors/month and 8 languages. ![Orphanet]( The database content is linked to the Orphanet nomenclature ![Orphanet_Map]( and we provide several dataset, also accessible on our platform Orphadata ![Orphadata]( Orphanet produce also the Orphanet Rare Diseases Ontology and clinical description of diseases using HPO ontology. Each disease concept has a unique, stable, identifier (Orphacode) which could be used to identify diseases in health information system. The orphacode has been integrated in several countries. ![Codification]( ### Nominated participant(s) - Rajaram Kaliyaperumal (FAIR expert) Celine Rousselot (Orphanet PHP dev lead) David Lagorce (Orphanet/Orphadata project manager & Dev) Marc Hanauer (Orphanet CTO) & Thomas Rosnet (IFB) (Please note: no travel fundings for Rousselot, Lagorce and Hanauer, only accommodation) ## Expected outcomes - Improve interoperability of our core data resources FAIRdatapoint avalaible ## Expected audience - FAIR expert PHP dev. (Orphanet's website) data model (RDF/Ontology) **Number of expected hacking days**: 4 ## Existing Repo Orphanet website Orphadata website