A key step to analysing genomic sequencing data is variant annotation — the process of drafting knowledge statements about a genetic variation. A given annotation may assert knowledge about a variant’s molecular consequence, impact on gene function, population frequency, pathogenicity, or impact on therapeutic response to treatment. These statements add to our shared understanding of the impact of certain genetic variants on human health and disease.

However, the genomics and health community lacks a precise method for structuring variant annotations, hindering our ability to effectively share and analyse this knowledge across contexts and borders. To address this challenge, the GA4GH Genomic Knowledge Standards (GKS) Work Stream is developing the Variant Annotation (VA) specification, which will include a community-driven definition of compatible and computable models for specific types of variation knowledge.

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Benefits

• Aims to provide a machine-readable structure to support efficient and precise sharing of knowledge
• Will offer a flexible framework to define new models for new variant annotation types

Target users

Researchers, clinicians, and clinical laboratories