B1MG / 1+MG - Overview of standards (related to B1MG D3.6 Phenotypic and clinical metadata framework - 3v0)

<p>B1MG / 1+MG - Overview of standards (related to B1MG D3.6 Phenotypic and clinical metadata framework - 3v0)</p&gt

B1MG D3.5 - Phenotypic and clinical metadata framework - 2v0

<p>The aim of the 1+MG member states initiative with coordination support of the Beyond 1 Million Genomes (B1MG) consortium is to develop a pan-European genome-based health data infrastructure to further develop and operationalise personalised medicine and to understand pharmacogenomics. In order to support the 1+MG member states initiative ambitions for sustainability policies regarding assets in the field of personalised medicine interoperability, a set of simple but well-aligned instruments needs to be prepared. One of the crucial instruments for 1+MG is a phenotypic and clinical metadata framework which describes, in a commonly understandable language, the principles, models and recommendations for sharing and linking of phenotypic and clinical metadata and genetic metadata between the member states. </p><p>The current framework document proposes to adhere to standards for data capture and exchange. The main target is to provide guidance on which standards, terminologies and tools to use. Best practices, describing which ontologies are currently implemented in each member state, are described elsewhere (Deliverable 3.8: <a href="https://zenodo.org/record/7342855#.Y76uvezP258">Documented best practices in sharing and linking phenotypic and genetic data - live working document</a>).</p><p>This framework document will be part of the entire B1MG  framework where other crucial instruments are taken care of by other work packages/working groups like Governance, ELSI and Technical Infrastructure. The B1MG framework will be part of the 1+MG Framework and will be used during implementation in<a href="https://gdi.onemilliongenomes.eu/"> the Genomic Data Infrastructure project</a> that has started November 1st 2022. While the B1MG framework document first of all aims at the 1+MG initiative, at the same time it could be used as a base for <a href="https://ec.europa.eu/health/ehealth-digital-health-and-care/european-health-data-space_en">the European Health Data Space</a> (EHDS). </p&gt