As the leading genomic health standards body, GA4GH has published a significant number of standards to support the operationalisation of genomic health implementations, advancing the field of genomic medicine. GA4GH standards support a wide variety of horizontal (domain-agnostic) use cases, but their extensive and overlapping scopes make it challenging to apply them cohesively to vertical domains, such as Rare Disease. 

The aim of this Connect session is to take the first step towards creating a portfolio of GA4GH products and associated descriptions of their recommended usage in the Rare Disease domain. The Community can showcase this portfolio to various Rare Disease focused initiatives and demonstrate what a streamlined data-oriented template looks like, what they should be implementing, and why. In this session we will take the first steps towards building this portfolio from the bottom up (i.e., from existing standards towards the RD-specific needs).