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Bioinformatic tools

Provided by RD CONNECT

RD Connect

RD-Connect has developed several bioinformatic tools to help researchers analyse omics data and identify targets for potential therapies. These include variant analysis and annotation tools as well as therapeutic prediction tools and gene-drug interaction resources, many of which are integrated in the Genome-Phenome Analysis Platform. RD-Connect Genome-Phenome Analysis Platform is a userfriendly tool that lets researchers and clinicians analyse DNA sequencing data and link them to clinical information (i.e. description of symptoms of the patients). This helps to understand how genes determine the disease symptoms and their severity, make accurate genetic diagnosis and design better treatment.

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Registry & Biobank Finder 

Provided by RD CONNECT

RD Connect

The RD-Connect Registry & Biobank Finder is an online directory of existing rare disease databases, registries and biobanks.

The RD-Connect Registry & Biobank Finder lets researchers find the rare disease patient registries and biobanks that store data on their rare disease of interest. The system provides databases’ contact data and the numbers of registered cases for each disease in the registry/biobank, regularly updated by the database curators.
Users can search the directory by disease name and its synonyms, ORPHA- or OMIM-codes and other keywords, such as the country or registry manager. The system also provides access to documents such as databases’ study protocols, case report forms, informed consent templates and data access agreements.

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Sample catalogue

Provided by RD CONNECT

RD Connect

RDConnect Sample Catalogue helps them browse and find biosamples from rare disease patients, such as blood and DNA, which they might use and re-use for research. The Sample Catalogue lets the researchers find detailed information on individual samples stored in rare disease biobanks and provides information about the available biomaterials, such as primary cells, tissue, DNA, serum, RNA, cell lines and others. The Sample Catalogue is open to all users free of charge and contains essential information and links to the biobanks where the sample is located to facilitate requesting the samples.

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