GA4GH Genomic Knowledge Standards

The “Genomic Knowledge Standards” (GKS) work stream is one of the elements of the Global Alliance for Genomics and Health (GA4GH), aimed at developing standard formats for the exchange of genomic data for research and biomedical applications. All members of this team must follow the GA4GH Standards of Professional Conduct.

The current focus of GKS lies in the evaluation and definitions of forward-looking formats and implementations for representation and annotation of genomic variants.

Work Stream Leads:

The two main projects are:

Variant Representation

Standardised extensible model for computational variant representation


Variant Annotation

Data model for linking variant data to annotations.


Technical Programme Manager