Virtual Cohort Assembly Discovery Phase Report: National Community Needs & Candidate Solutions

The Human Genomes Platform Project (HGPP) is a nationally-funded collaborative research project aiming to enhance capability for securely and responsibly sharing human genomics research data.  National and international connectivity will maximise the utility of these sensitive and valuable assets. The partners on the project represent many of the largest human genome sequencing and analysis efforts in Australia.

Currently there is no way to identify virtual cohorts of individuals who have had their genomes sequenced nationally as it is not possible to query across the separate assets from each participating genomics repository. This work aims to implement a system that can be used to identify cohorts of individuals and related data assets across the repositories located at each of the partner institutes (i.e., UMCCR/Australian Genomics, QIMRB, ZERO/CCIA, Garvan and NCI)

The initial focus of the virtual cohorts sub-project within the HGPP was a knowledge discovery and recording phase to define:

• the current state of cross-institutional human genomic data querying in Australia

• the set of problems that need to be addressed 

• key stakeholders and their (likely) requirements.

As such, this document records:

• the current state of processes and tools for virtual cohort querying

• national community needs

• candidate solutions to enable cross-institutional virtual cohort querying

• recommendations on preferred technology and proposed implementation architecture

This document will be used as a reference to plan the pilot for a system that addresses prioritised requirements to create a Minimum Viable Product (MVP). The primary audiences for this document include the HGPP sub-project team, other HGPP stakeholders, and the project reference group.