New classes

  • SequenceExpressions replaces SequenceState with more sophisticated expressions such as sequence repeats and sequence derived from a location.
  • Gene enables reference to an external definition of a gene, particularly for useas a subject of copy number expressions.
  • CopyNumber captures the copies of a molecule within a genome, and can be used to express concepts such as amplification and copy loss.
  • VRS 1.2 introduces a 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.
  • NestedInterval represents imprecise or uncertain locations.

Other data model changes

  • Sequence strings are now formally defined by a Sequence type, which is fundamentally also a string. This change aids documentation but has no technical impact.