Speaker: Montse Gustems Date: 24th of March, 2021 Registration link to receive connection details Platform summary: INFRAFRONTIER is the European Research Infrastructure for the generation, phenotyping, archiving and distribution of model mammalian genomes. The core services of INFRAFRONTIER comprise the systemic phenotyping of mouse mutants in the participating mouse clinics, and the archiving and distribution of mouse […]
Read MoreSpeaker: TBD Date: 25th November Registration link to receive connection details Platform Summary: Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the […]
Read MoreSpeaker: Esther van Enckevort Date: 27th October Registration link to receive connection details Platform Summary: The Sample Catalogue provides an overview of biological samples from rare disease patients that are available for research. The catalogue allows searching for samples based on a limited number of key characteristics such as disease, type of sample and limited demographical data of the patient. […]
Read MoreSpeaker: Giselle Kerry (TBC) Date: 20th September Registration link to receive connection details Platform Summary: The EGA provides a service for the permanent archiving and distribution of personally identifiable genetic and phenotypic data resulting from biomedical research projects. Data at EGA was collected from individuals whose consent agreements authorize data release only for specific research use to bona fide researchers. Strict […]
Read MoreSpeaker: TBD Date: 22nd July Registration link to receive connection details Platform Summary: MetaboLights is a database for Metabolomics experiments and derived information. The database is cross-species, cross-technique and covers metabolite structures and their reference spectra as well as their biological roles, locations and concentrations, and experimental data from metabolic experiments. MetaboLights is the recommended Metabolomics repository for several leading journals. Learning Objectives: Participants will be introduced metabolomics […]
Read MoreSpeaker: Nancy Mah Date: 21st June Registration link to receive connection details Platform Summary: The human pluripotent stem cell registry (hPSCreg: https://hpscreg.eu/) maintains a data resource to track the usage of human embryonic and induced pluripotent stem cell lines from research to clinical applications. Over 3400 hPSC lines have been registered (as of February 2021), with approximately a quarter of the lines originating from donors with […]
Read MoreSpeaker: Julia Foreman Date: 27th May Registration link to receive connection details Platform Summary: DECIPHER is an online data-sharing platform facilitating the visualization and contextualization of rare disease genomic and phenotypic relationships, to enable diagnosis and discovery. More than 250 academic clinical genetic centers and research centers from across the world deposit and share data through the platform. It currently openly shares >38,000 rare […]
Read MoreSpeaker: Amos Bairoch Date: 26th April Platform Summary: Cell line knowledge resource. While the Cellosaurus caters for all kind of cell lines, this webinar will emphasize its use in the context of RD. Currently the Cellosaurus contains ~33,000 cell lines that are relevant to 1150 different rare diseases. The entries contains a wealth of variation information relevant to 940 […]
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