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New variation Types, SequenceExpressions, CopyNumber

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@reece reece released this 20 Sep 20:34
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Deprecations

  • SimpleInterval and SequenceState are deprecated. They will be removed in VRS 2.0.

Major Changes

  • New classification of variation types.

    • Molecular Variation refers to variation within or of a contiguous molecular
    • Systemic Variation refers to variation in the context of a system, such as a genome, sample, or homologous chromosomes
    • Utility Variation classes provide useful representations for certain technical operations
  • New SequenceExpressions subclasses replace SequenceState. Subtypes are:

    • DerivedSequenceExpression, which representations sequence notionally derived from a SequenceLocation
    • RepeatedSequenceExpression, which represents contiguous repeats of a sequence
    • LiteralSequenceExpression, which wraps a Sequence and provides data structure parity with other SequenceExpressions
  • CopyNumber, a form of SystemicVariation, represents the copies of a molecule within a genome, and can be used to express concepts such as amplification and copy loss.

  • Gene enables reference to an external definition of a gene, particularly for useas a subject of copy number expressions.

  • DefiniteRange and IndefiniteRange represent bounded and half-bounded ranges respectively. A new Number type wraps integers so that some attributes may assume values of any of these three types.

For more changes, see the release notes