TREAT-NMD patient registries and cohorts services

Provided by TREAT-NMD

TREAT-NMD can advise if a registry is available for a particular neuromuscular condition (contact email) and a list of registries by disease can be found here. The data in registries can be entered by patients themselves, by their doctor or by a combination of the two.
Registries can:
Identify participants for clinical trials
Help develop care standards, to help improve the care people receive
Support specific research questions
Provide information for doctors and scientists to learn more about neuromuscular diseases
Represent a link between patients and the research community, providing the opportunity for people to receive information directly relevant to their condition (for example, through newsletters)

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DECIPHER data repositories (access/management/deposition) services

Provided by DATABASE OF GENOMIC VARIATION AND PHENOTYPE IN HUMANS USING ENSEMBL RESOURCES (DECIPHER)

DECIPHER is a clinical and research tool used by the clinical community to share and compare phenotypic and genotypic data and to
1. Aid in the interpretation of data from genome-wide analyses e.g. the differentiation between pathogenic and benign genomic variants.
2. Utilise the human reference sequence via Ensembl and other genome browsers to define which genes are involved in a specific structural variant (e.g. copy number variant) and for smaller variants (e.g. sequence variants), whether they are positioned within a gene or regulatory element and predict their likely consequence.
3. Facilitate research into the study of genes that affect human health and development to define new gene-disease and variant-disease associations and to improve diagnosis, management and therapy of rare diseases.

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EBI data repositories (access/management/deposition) services

Provided by EUROPEAN BIOINFORMATICS INSTITUTE (EBI)

EBI makes the world’s public biological data freely available to the scientific community via a range of services and tools and helps scientists everywhere turn information into knowledge in the following areas:
Genes, genomes & variation
Expression
Protein sequences
Molecular & cellular structures
Chemical biology
Pathways & systems

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ELIXIR biological system modeling / bioinformatics services

Provided by ELIXIR

The Tools Platform helps communities find, register and benchmark software tools. These tools help researchers access, analyse and integrate biological data, and so drive scientific discovery across the life sciences.
We maintain information standards for these tools, and produce, adopt and promote best practices for their development. We also:
*connect tools and data services
*link tools to training materials
*make it easy to download, deploy, and benchmark tools for performance
*put tools in the context of the common workflows in bioinformatics, including container technologies and Galaxy.

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ELIXIR data repositories (access/management/deposition) services

Provided by ELIXIR

The goal of the ELIXIR Data Platform is to drive the use, re-use and value of life science data. It aims to do this by providing users with robust, long-term sustainable data resources within a coordinated, scalable and connected data ecosystem. Bioinformaticians and life science researchers in both academic and industrial settings need confidence in the sound governance, life cycle management, and long-term sustainability of those data resources.
Platform highlights
ELIXIR Core Data Resources: European data resources that are of fundamental importance to research in the life sciences and are committed to the long-term preservation of data.
ELIXIR Deposition Databases: repositories recommended for the deposition of life sciences experimental data.
Data resource services: this list is updated as Nodes finalise or review their Service Delivery Plans

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ELIXIR training courses services

Provided by ELIXIR

The ELIXIR Training Platform was established to develop a training community that spans all ELIXIR member states. It aims to strengthen national training programmes, grow bioinformatics training capacity and competence across Europe, and empower researchers to use ELIXIR’s services and tools.
The Platform:

establishes and implements best practices in bioinformatics training through a training Toolkit
supports training providers across Europe in creating and delivering training for developers, researchers and trainers
builds a sustainable training infrastructure

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IMPC phenotyping, genotyping and/or development of rodent models services

Provided by INTERNATIONAL MOUSE PHENOTYPE CONSORTIUM (IMPC)

The IMPC offers a wide range of free, open-access resources for all our users. Our phenotype data is available in the following formats:

Gene and Phenotype pages: All data from our phenotyping centres is QCd (Quality Controlled), analysed and processed to be displayed to anyone with an internet connection, for free! You can also order IMPC Alleles supplied by our consortium members in the Order Mice section. Enter a gene symbol or phenotype to start your search.
Bulk Data: For users and collaborators that want to use our data in their own custom queries we offer FTP, API and Batch Query access to our data for all your analysis needs!
Advanced Tools: We have built a variety of advanced tools to help view, use and analyse our data.
Data Collections: We have curated pages that highlight certain areas of our data that are key to a number of research areas. Examples include cardiovascular, embryo development and pain.

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INSTRUCT-ERIC biological system modeling / bioinformatics services

Provided by INSTRUCT-ERIC

instruct-eric

Services offered by Instruct include
Computational Services for Structural Biology: Bioinformatics Tools, Integrative Modelling, Crystallography, Electron Microscopy, NMR
More information about our current technology offering can be found at https://instruct-eric.eu/platform-catalogue

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INSTRUCT-ERIC structural biology technologies/software services

Provided by INSTRUCT-ERIC

instruct-eric

Services offered by Instruct include
Sample Preparation: Crystallisation, Nanobody Discovery, Protein Production;
Biomolecular Analysis: Imaging, Mass Spectrometry, Molecular Biophysics;
3D Structural Analysis: Electron Microscopy, Magnetic Resonance Techniques, X-ray Techniques;

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COMET patient-Centered Outcomes/ Core outcome sets services

Provided by CORE OUTCOME MEASURES IN EFFECTIVENESS TRIALS (COMET)

COMET stands for the ‘Core Outcome Measures in Effectiveness Trials’ Initiative. It has developed a database of all studies relevant to the development of core outcome sets for use in clinical trials. The COMET initiative was set up to help in two main ways:
*to provide the COMET database as a central point where researchers, practitioners and patients can find core outcome sets that have already been developed or are still under development.
* Provide materials to support the teams who are working on core outcome sets

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