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mbrush authored Feb 21, 2025
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``PREREQUISITES``: None

The GA4GH Variant Annotation Specification (VA-Spec) was developed by a partnership among national information resource providers and major public initiatives — as an open specification to standardize the exchange of knowledge in :ref:`Variant Annotations<what-is-a-variant-annotation>`. It provides a set of :ref:`Standard Models<standard-profiles>` for exchanging specific kinds of :ref:`Statements<Statement>` and :ref:`Study Results<StudyResult>` about genetic variation, and a :ref:`Modeling Framework<profiling-methodology>` supporting community-driven development of these standards as :ref:`Profiles<standard-profiles>` of a foundational :ref:`Core Information Model<core-information-model>`. It leverages the GA4GH `VRS <https://vrs.ga4gh.org/en/latest/index.html>`_ and `Cat-VRS <https://github.com/ga4gh/cat-vrs?tab=readme-ov-file>`_ specifications to represent :ref:`diverse kinds of variation<what-types-of-variants-are-supported>` as annotation subjects. And it supports :ref:`diverse kinds of variant knowledge<what-kinds-of-variant-knowledge-are-supported>`, leaving case-level variant information to other standards.
The GA4GH Variant Annotation Specification (VA-Spec) was developed by a partnership among national information resource providers and major public initiatives — as an open specification to standardize the exchange of knowledge in :ref:`Variant Annotations<what-is-a-variant-annotation>`. It provides a set of :ref:`Standard Models<standard-profiles>` for exchanging specific kinds of :ref:`Statements<Statement>` and :ref:`Study Results<StudyResult>` about genetic variation, and a :ref:`Modeling Framework<profiling-methodology>` supporting community-driven development of these standards as :ref:`Profiles<standard-profiles>` of a foundational :ref:`Core Information Model<core-information-model>`. It leverages the GA4GH `VRS <https://vrs.ga4gh.org/en/latest/index.html>`_ and `Cat-VRS <https://github.com/ga4gh/cat-vrs?tab=readme-ov-file>`_ specifications to represent :ref:`diverse kinds of variation<what-types-of-variants-are-supported>` as annotation subjects. And it supports :ref:`diverse kinds of variant knowledge<what-kinds-of-variant-knowledge-are-supported>`, leaving case-level variant information to other standards..

Modeling Framework Components
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