Rare diseases patient registries

Provided by Cellosaurus

Cellosaurus

The Cellosaurus is a knowledge resource on cell lines. It attempts to describe all cell lines used in biomedical research, including:
Immortalized cell lines
Naturally immortal cell lines (example: stem cell lines)
Finite life cell lines when those are distributed and used widely
Vertebrate cell line with an emphasis on human, mouse and rat cell lines
Invertebrate (insects and ticks) cell lines

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Global registry for human pluripotent stem cell lines

Provided by Human Pluripotent Stem Cell Registry (hPSCreg)

HPSCREG

It aims to provide to the community

a central and searchable hub for available hPSC-lines
a central registry of clinical studies based on hPSC-lines
a standardized identifier for hPSC-lines and register of these standard names
a trustworthy data source for hPSC-lines by verifying the ethical and biological conformity of registered lines based on community standards
comparability of quality standards in hPSC research
certification of quality and ethical provenance of hPSC-lines
a platform where any scientist or institution generating or working with PSC lines can register their cell lines, projects or clinical studies

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Secure data sharing repository for rare disorders

Provided by PhenomeCentral

PhenomeCentral is a repository for secure data sharing targeted at clinicians and scientists working in the rare disorder community. We encourage global scientific collaboration while respecting the privacy of patients profiled in this centralized database. PhenomeCentral uses state-of-the-art algorithms to match cases on phenotype and genotype. You can find similar cases even if there are no phenotypes in common, because terms are matched semantically rather than using textual similarity. You can enter candidate genes or let the Exomiser automatically prioritize genes from exome sequencing data.

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COSYS – open computational platform for Systems Biology

Provided by SYSBIO – Centre of Systems Biology

SYSBIO

COSYS is an open computational platform designed for the Systems Biology community. Designed to help life scientists to easily access basilar systems biology tools, it can be also used with effectiveness by skilled systems biologists. Cooperation-driven and user-friendly, COSYS is a unified tool for biological modeling (mechanistic and constraint-based), simulation and analysis, providing users with the cutting edge of GPU-powered computation. COSYS is free of charge, and can be used by everyone.

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Bioinformatics supporting analysis, integration and interpretation of large scale genomics datasets

Provided by CCRI (Children's Cancer Research Institute)

ZANDR

* Bioinformatics: The bioinformatics team provides advice and support for CCRI researchers with regard to analysis, integration and interpretation of large scale genomics datasets. We maintain and run computational pipelines for processing raw next-generation sequencing (NGS) data and data quality checks for all genomics data held within the CCRI/St.Anna Children´s Hospital. We are also performing high quality data analyses in close collaboration with CCRI/St.Anna Children´s Hospital researchers.

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Zebrafish platform for preclinical drug screening

Provided by CCRI (Children's Cancer Research Institute)

ZANDR

* Zebrafish platform Austria for Preclinical drug Screening (ZANDR) is a unique platform to phenotypically screen small compounds on zebrafish models of human diseases.
Zebrafish and in particular zebrafish larvae is a well suited vertebrate model system to investigate various human diseases and to perform cost-effective screens for small molecules with therapeutic potential (1). Funded by FFG, we have established a zebrafish-optimized and automated screening platform, which is open to the scientific community. Please contact us, if you are interested in collaboration: www.zandr-ccri.at

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Software Tools Platform to access, analyse and integrate biological data

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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Phenotype data for single-gene knockouts

Provided by INTERNATIONAL MOUSE PHENOTYPE CONSORTIUM (IMPC)

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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Computational 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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 Mouse Models

Provided by INFRAFRONTIER

infrafrontier

Services offered by INFRAFRONTIER include
• archiving and distribution of scientifically valuable mutant mouse strains
• rodent model development (mouse and rat) using gene targeting in embryonic ES-cells or CRISPR/CAS9 technologies
• systemic phenotyping of mutant mice for a whole-organism view on gene function
• germ-free (axenic) mice
• validated genetically engineered mouse models of cancer

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