The following information is a placeholder for GKS’ new landing page. We are maintaining this as an interim solution. The information shown here should be considered minimal.

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

• Melissa Cline
• Alex Wagner

Projects

Variant Representation

Standardised extensible model for computational variant representation

VRS GitHub Repo

Leads:

• Larry Babb
• Alex Wagner

Variant Annotation

Structured data objects holding a central piece of knowledge (a ‘Statement’) about a genetic variation, along with metadata supporting its interpretation and use

VA GitHub Repo

Leads:

• Matt Brush
• Javier Lopez

Sequence Annotation

Modelling genomic and sequence annotations pertinent to variation interepretation

SA GitHub Repo

Leads:

• Karen Eilbeck
• Sean Upchurch
• Evan Christensen

Categorical Variation

Modelling categorical variants in genomic knowledgebases

Cat-VRS GitHub Repo

Leads:

• Daniel Puthawala

Technical Programme Manager

• Beatrice Amos