standards > model/format > DOI:10.25504/FAIRsharing.pxvkt0

ready Variation data representation and exchange

Abbreviation: VarioML

General Information
A Locus-specific Database (LSDB) describes the variants discovered on a single gene or members of a gene family and other related functional elements. LSDBs are curated by experts on their respective loci, and as such are typically the best resources of such information available. But LSDBs vary widely in format and completeness, making data integration and exchange among them difficult and time-consuming. To address these difficulties, the VarioML format has been developed for the full range of variation data use-cases, providing semantically well-defined components which can be easily composed to fit specific needs. Using VarioML, data owners can now efficiently enable the integration, federation, and exchange of their variant data. The discoverabiliaty, extensibility, and quality of variation data is immediately enhanced. Critical new avenues of research and knowledge discovery are opened, as data using the VarioML standard can be integrated with the global library of purely genetic data. VarioML is a central prerequisite for effective modelling of phenotype data and genotype-to-phenotype relationships. It removes the long-standing technical obstacles to the effective passing of variant data from discovery laboratories into the biomedical database world. Now all that is needed is the broad participation of the genotype-to-phenotype research community.

How to cite this record VarioML; Variation data representation and exchange; DOI:; Last edited: Feb. 22, 2018, 2:40 p.m.; Last accessed: Oct 20 2018 2:39 a.m.

This record is maintained by jmuilu  ORCID

Record updated: Oct. 24, 2016, 8:28 p.m. by The FAIRsharing Team.

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VarioML framework for comprehensive variation data representation and exchange

Byrne M, Fokkema IF, Lancaster O, Adamusiak T, Ahonen-Bishopp A, Atlan D, Beroud C, Cornell M, Dalgleish R, Devereau A, Patrinos GP, Swertz MA, Taschner PE, Thorisson GA, Vihinen M, Brookes AJ, Muilu J
BMC Bioinformatics 2012

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Implementing Databases (1)
Database of genomic structural VARiation
dbVar is a database of genomic structural variation. It accepts data from all species and includes clinical data. It can accept diverse types of events, including inversions, insertions and translocations. Additionally, both germline and somatic variants are accepted.

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