These specifications have been proposed to GEN2PHEN as necessary components of a standardized description format for variation data.
An introduction to implementing VarioML using these specifications is here.
If you see an improvement that could be made, or if none of the active and draft specifications listed on this page meet your needs for describing variation data, contact us.
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Individual-centric Variation Data format
VarioML is built around the minimum information required to describe variation data.
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Frequency-centric Variation Data format
This frequency-centric implementation is designed to be adaptable to most all situations where variation data is organized around populations. It also serves as the core reference implementation for adaptations and extensions to the format for special cases, insuring the ability to integrate, federate, and exchange data produced by such extensions.