6573854
doi
10.5281/zenodo.6573854
oai:zenodo.org:6573854
user-eu
Gut, Ivo
CRG
Groot, Harmke
NICTIZ
Ligtvoet, Maarten
NICTIZ
Volkert, Pim
NICTIZ
Gu, Wei
1+MG WG3
Korbel, Jan
1+MG WG3
Tebaldi, Michela
1+MG WG3
Urbini, Milena
1+MG WG3
Martinelli, Giovanni
1+MG WG3
Riba, Michela
1+MG WG3
Pinto, Catia
1+MG WG3
Soares, Flávio
1+MG WG3
Hermansson, Ulrika
1+MG WG3
Valencia, Alfonso
1+MG WG3
Ambrozaityte, Laima
1+MG WG3
Jarmalaite, Sonata
1+MG WG3
Aittomaki, Kristiina
1+MG WG3
Laivuori, Hannele
1+MG WG3
Lindström, Rutt
1+MG WG3
Hoen, Peter-Bram't
1+MG WG3
Becker, Regina
UNILU
Serrano, Pablo
Spanish 1+MG NMG
B1MG D3.4 Phenotypic and clinical metadata framework — 1v0
Beliën, Jeroen
VUmc
info:eu-repo/semantics/openAccess
Creative Commons Attribution 4.0 International
https://creativecommons.org/licenses/by/4.0/legalcode
B1MG
Beyond 1 Million Genomes
1+MG
1 Million Genomes Initiative
Phenotypic metadata
Clinical metadata
framework document
phenotypic and clinical metadata framework
<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: Documented best practices in sharing and linking phenotypic and genetic data - live working document1).</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 document first of all aims at the 1+MG initiative while at the same time could be used as a base for the European Health Data Space2 (EHDS) and/or genomic data space.</p>
Zenodo
2022-05-23
info:eu-repo/semantics/report
6573853
user-eu
award_title=Beyond 1M Genomes; award_number=951724; award_identifiers_scheme=url; award_identifiers_identifier=https://cordis.europa.eu/projects/951724; funder_id=00k4n6c32; funder_name=European Commission;
1653357030.06338
1421234
md5:3368e3367efd1097bd135bfce0af7420
https://zenodo.org/records/6573854/files/202105 B1MG D3.4 - Phenotypic and clinical metadata framework - 1v0.pdf
public
10.5281/zenodo.6573853
isVersionOf
doi