FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research

The genomes of thousands of individuals are profiled within Dutch healthcare and research each year. However, this valuable genomic data, associated clinical data and consent are captured in different ways and stored across many systems and organizations. This makes it difficult to discover rare disease patients, reuse data for personalized medicine and establish research cohorts based on specific parameters. FAIR Genomes aims to enable NGS data reuse by developing metadata standards for the data descriptions needed to FAIRify genomic data while also addressing ELSI issues. We developed a sema... Mehr ...

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Verfasser: van der Velde, K. Joeri
Singh, Gurnoor
Kaliyaperumal, Rajaram
Liao, XiaoFeng
de Ridder, Sander
Rebers, Susanne
Kerstens, Hindrik H. D.
de Andrade, Fernanda
van Reeuwijk, Jeroen
de Gruyter, Fini E.
Hiltemann, Saskia
Ligtvoet, Maarten
Weiss, Marjan M.
van Deutekom, Hanneke W. M.
Jansen, Anne M. L.
Stubbs, Andrew P.
Vissers, Lisenka E. L. M.
Laros, Jeroen F. J.
van Enckevort, Esther
Stemkens, Daphne
‘t Hoen, Peter A. C.
Beliën, Jeroen A. M.
van Gijn, Mariëlle E.
Swertz, Morris A.
Dokumenttyp: Artikel
Erscheinungsdatum: 2022
Reihe/Periodikum: van der Velde , K J , Singh , G , Kaliyaperumal , R , Liao , X , de Ridder , S , Rebers , S , Kerstens , H H D , de Andrade , F , van Reeuwijk , J , de Gruyter , F E , Hiltemann , S , Ligtvoet , M , Weiss , M M , van Deutekom , H W M , Jansen , A M L , Stubbs , A P , Vissers , L E L M , Laros , J F J , van Enckevort , E , Stemkens , D , ‘t Hoen , P A C , Beliën , J A M , van Gijn , M E & Swertz , M A 2022 , ' FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research ' , Scientific data , vol. 9 , no. 1 , 169 . https://doi.org/10.1038/s41597-022-01265-x
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29047447
Datenquelle: BASE; Originalkatalog
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Link(s) : https://research.vumc.nl/en/publications/8a976f34-2444-4d6c-a85b-71ed54186b03