Models & Tools

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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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Phenotyping of Laboratory Animals

Provided by SEFALER: LABORATORY ANIMALS PHENOTYPING NETWORK

The SEFALer platform is a pioneering network structure seeking to provide a comprehensive service in all phases of phenotyping animal models of rare diseases. It is structured through cooperation between services provided by CIBERER groups through different institutions.Actvities include:
1. Characterisation of animal models of human rare diseases.
*Secondary functional phenotyping in the following contexts:
– Platforms for phenotyping transgenic mice.
– Pharmacology and toxicology.
– Degeneration and regeneration studies.
– Ageing studies.
– Characterisation of experimental models forming part of behavioural, surgical studies, etc. Phenotypic selection of reproducers for stabling.
*Morphological phenotyping.
2.CIBERER database: models available, genic expression and phenotype.
3. Technical-scientific advice.
4. Training

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