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  1. VarioML is a data integration solution

    that creates a layer of meaning above the many variation standards and formats used across labs and clinics, enabling them to be integrated and made sense of as a whole. Use VarioML to:
    contribute
    • upgrade your data for exchange and integration with other LSDBs and biomedical data sources
    • include your sequence variation data in web-based, gene-centered, locus-specific databases
    • integrate your variation data using HGVS Nomenclature, keeping variant descriptions stable
    • use and consume standardised data for up-to-date information on sequence variation between individuals
    • increase human understanding of the relationship between DNA variations and disease
    See An introduction to implementing VarioML [ top ]

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    Contribute

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  1. Cafe Variome

    Facilitating the exchange of sequence variant data from diagnostic laboratories to diverse third parties.
      Cafe Variome, a separate project also produced by the GEN2PHEN consortium, implements the VarioML specification, adapting it into a powerful framework for variant sequence data exchange.

    • Go to the Cafe Variome website.
    • Use VarioML to share your data through Cafe Variome.
    [ top ]