- ES
- NL
- CN
- Thematic: No
- ES
- NL
- CN
- Thematic: No
- Institutional Repository Spain Compatibility:Not yet registeredPartners:Ministerio de Defensa, Gobierno de EspañaMinisterio de Defensa, Gobierno de EspañaAll Research products
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This site provides access to the research output of the institution. Users may set up RSS feeds to be alerted to new content. The interface is in English, Spanish or Catalan. Some items are held on external websites.
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For further information contact us at helpdesk@openaire.eu - Data Repository China (People's Republic of) Compatibility:Not yet registeredPartners:WMC Biomedical Science, mutation analysis, mutationWMC
mirDNMR is a database for the collection of gene-centered background DNMRs obtained from different methods and population variation data. The database has the following functions: (i) browse and search the background DNMRs of each gene predicted by four different methods, including GC content (DNMR-GC), sequence context (DNMR-SC), multiple factors (DNMR-MF) and local DNA methylation level (DNMR-DM); (ii) search variant frequencies in publicly available databases, including ExAC, ESP6500, UK10K, 1000G and dbSNP and (iii) investigate the DNM burden to prioritize candidate genes based on the four background DNMRs using three statistical methods (TADA, Binomial and Poisson test). In conclusion, mirDNMR can be widely used to identify the genetic basis of sporadic genetic diseases.
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For further information contact us at helpdesk@openaire.eu - Data Repository Spain Compatibility:Not yet registeredPartners:LifeWatch ERIC Bioinformatics, Taxonomy, BiodiversityLifeWatch ERIC
LW ERIC is the e-Science European Research Infrastructure for Biodiversity and Ecosystem Research. It provides access to a multitude of datasets, e-Services and tools enabling the construction and operation of Virtual Research Environments (VREs) through innovative technologies, which permit the accelerated capture of data, their analysis and knowledge-based decision-making support for biodiversity and ecosystem management. It can be split into 2 groups of services: BER_e-Infra & BER_VREs. BER_VREs consists of 3 cutting-edge technologies: LifeBlock, a Blockchain technology for transparency and immutability, guaranteeing FAIR-compliant data. Tesseract, the technical composability layer to integrate web services, enabling the development of VREs for users to combine and arrange services and software into multiple workflows. The Artificial Intelligence virtual laboratory (vLab), an online service allowing users to locate others working on similar subjects and the hubs that link them. Within BiCiKL, LW ERIC will support virtual access to BER_VREs.
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This is the institutional repository of Universitat Rovira i Virgili. The interface is available in Spanish, Catalan and English.
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This is the institutional repository of Universitat de Vic - Universitat Central de Catalunya. It provides access to the work of staff and students and the interface is available in Catalan, Spanish and English.
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The database is gene-centered and organized by paralog family. It focused on the paralogs and the duplication events in the evolution. The paralog families and paralogons can be searched by text or sequence, and are downloadable from the website in plain text files.
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This site provides access to the research output of the institution. The interface is available in English. Some items are not available as full-text.
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For further information contact us at helpdesk@openaire.eu - Data Repository Spain Compatibility:Not yet registeredPartners:IBI Life Science, Human Genetics, Biomedical ScienceIBI
re3data: r3d100013301
DisGeNET is a discovery platform containing one of the largest collections available of genes and variants involved in human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models, and the scientific literature, and covers the whole landscape of human diseases. The current version of DisGeNET (v7.0) contains 1,134,942 gene-disease associations (GDAs), between 21,671 genes and 30,170 diseases, disorders, traits, and clinical or abnormal human phenotypes, and 369,554 variant-disease associations (VDAs), between 194,515 variants and 14,155 diseases, traits, and phenotypes. The data are homogeneously annotated with controlled vocabularies and community-driven ontologies. Additionally, several original metrics are provided to assist the prioritization of genotype-phenotype relationships. The information is accessible through a web interface, a Cytoscape App, an RDF SPARQL endpoint, a REST API, and an R package.
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For further information contact us at helpdesk@openaire.eu - Institutional Repository Spain Compatibility:OpenAIRE 3.0 (OA, funding)Partners:UdL MultidisciplinaryUdLOAI-PMH URL: http://repositori.udl.cat/oai/openaire
This site provides access to the research output of the institution. Users may set up RSS feeds to be alerted to new content. The interface is in English, Spanish or Catalan. Some items are held on external websites.
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For further information contact us at helpdesk@openaire.eu - Data Repository China (People's Republic of) Compatibility:Not yet registeredPartners:WMC Biomedical Science, mutation analysis, mutationWMC
mirDNMR is a database for the collection of gene-centered background DNMRs obtained from different methods and population variation data. The database has the following functions: (i) browse and search the background DNMRs of each gene predicted by four different methods, including GC content (DNMR-GC), sequence context (DNMR-SC), multiple factors (DNMR-MF) and local DNA methylation level (DNMR-DM); (ii) search variant frequencies in publicly available databases, including ExAC, ESP6500, UK10K, 1000G and dbSNP and (iii) investigate the DNM burden to prioritize candidate genes based on the four background DNMRs using three statistical methods (TADA, Binomial and Poisson test). In conclusion, mirDNMR can be widely used to identify the genetic basis of sporadic genetic diseases.
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For further information contact us at helpdesk@openaire.eu - Data Repository Spain Compatibility:Not yet registeredPartners:LifeWatch ERIC Bioinformatics, Taxonomy, BiodiversityLifeWatch ERIC
LW ERIC is the e-Science European Research Infrastructure for Biodiversity and Ecosystem Research. It provides access to a multitude of datasets, e-Services and tools enabling the construction and operation of Virtual Research Environments (VREs) through innovative technologies, which permit the accelerated capture of data, their analysis and knowledge-based decision-making support for biodiversity and ecosystem management. It can be split into 2 groups of services: BER_e-Infra & BER_VREs. BER_VREs consists of 3 cutting-edge technologies: LifeBlock, a Blockchain technology for transparency and immutability, guaranteeing FAIR-compliant data. Tesseract, the technical composability layer to integrate web services, enabling the development of VREs for users to combine and arrange services and software into multiple workflows. The Artificial Intelligence virtual laboratory (vLab), an online service allowing users to locate others working on similar subjects and the hubs that link them. Within BiCiKL, LW ERIC will support virtual access to BER_VREs.
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This is the institutional repository of Universitat Rovira i Virgili. The interface is available in Spanish, Catalan and English.
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This is the institutional repository of Universitat de Vic - Universitat Central de Catalunya. It provides access to the work of staff and students and the interface is available in Catalan, Spanish and English.
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For further information contact us at helpdesk@openaire.eu - Data Repository China (People's Republic of) Compatibility:Not yet registeredPartners:CUCKOO Life Science, deoxyribonucleic acid, geneCUCKOO
The database is gene-centered and organized by paralog family. It focused on the paralogs and the duplication events in the evolution. The paralog families and paralogons can be searched by text or sequence, and are downloadable from the website in plain text files.
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For further information contact us at helpdesk@openaire.eu - Institutional Repository Netherlands Compatibility:OpenAIRE 3.0 (OA, funding)Partners:CWI Mathematics and Statistics, Computers and ITCWIOAI-PMH URL: https://ir.cwi.nl/oai
This site provides access to the research output of the institution. The interface is available in English. Some items are not available as full-text.
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For further information contact us at helpdesk@openaire.eu - Data Repository Spain Compatibility:Not yet registeredPartners:IBI Life Science, Human Genetics, Biomedical ScienceIBI
re3data: r3d100013301
DisGeNET is a discovery platform containing one of the largest collections available of genes and variants involved in human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models, and the scientific literature, and covers the whole landscape of human diseases. The current version of DisGeNET (v7.0) contains 1,134,942 gene-disease associations (GDAs), between 21,671 genes and 30,170 diseases, disorders, traits, and clinical or abnormal human phenotypes, and 369,554 variant-disease associations (VDAs), between 194,515 variants and 14,155 diseases, traits, and phenotypes. The data are homogeneously annotated with controlled vocabularies and community-driven ontologies. Additionally, several original metrics are provided to assist the prioritization of genotype-phenotype relationships. The information is accessible through a web interface, a Cytoscape App, an RDF SPARQL endpoint, a REST API, and an R package.
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