standards > model/format > DOI:10.25504/FAIRsharing.pxvkt0
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ready Variation data representation and exchange

Abbreviation: VarioML


General Information
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 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 FAIRsharing.org: VarioML; Variation data representation and exchange; DOI: https://doi.org/10.25504/FAIRsharing.pxvkt0; Last edited: Jan. 8, 2019, 1:39 p.m.; Last accessed: Oct 16 2021 4:25 p.m.


This record is maintained by jmuilu  ORCID

Record updated: Nov. 21, 2018, 11:40 a.m. by The FAIRsharing Team.

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Publications

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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Related Databases (1)
Database of genomic structural VARiation
dbVar is a database of human genomic structural variation where users can search, view, and download data from submitted studies. dbVar stopped supporting data from non-human organisms in 2017, however existing non-human data remains available. In keeping with the common definition of structural variation, most variants are larger than 50 basepairs in length - however a handful of smaller variants may also be found. dbVar provides access to the raw data whenever available, as well as links to additional resources, from both NCBI and elsewhere. It can accept diverse types of events, including inversions, insertions and translocations. Additionally, both germline and somatic variants are accepted.

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Grant Number(s)

  • 200754 (European Commission FP7)