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Found 2 result(s)

DisGeNET

A knowledge base for disease genomics

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DisGeNET is a discovery platform containing one of the largest publicly available collections of genes and variants associated to human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature. DisGeNET 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.

BBMRI-ERIC Directory

Directory of Biobanks

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BBMRI-ERIC is a European research infrastructure for biobanking. We bring together all the main players from the biobanking field – researchers, biobankers, industry, and patients – to boost biomedical research. To that end, we offer quality management services, support with ethical, legal and societal issues, and a number of online tools and software solutions. Ultimately, our goal is to make new treatments possible. The Directory is a tool to share aggregate information about the biobanks that are willing external collaboration. It is based on the MIABIS 2.0 standard, which describes the samples and data in the biobanks at an aggregated level.