Human Genomics and Translational Data (HGTD)

ELIXIR Human Data Communities (HDCs)   

Goal: To develop cohesive strategy to ensure the delivery of technical infrastructure and develop management of sensitive human data consented for secondary use capabilities for ELIXIR Nodes and beyond. The HDCs will work to establish robust European-level infrastructure by stimulating communication and collaboration that enables human data research communities to achieve shared scientific goals. 

ELIXIR Federated Human Data Community (FHD)

Goal: The Federated Human Data Community extends and generalises the system of access authorisation and secure data transfer developed in the EGA. It aims to provide a framework for the secure submission, archiving, dissemination and analysis of human biomedical data across Europe.

ELIXIR Human Copy Number Variation Community (hCNV)

Goal: Copy Number Variations are vital for evolution, but they also play important roles in disease. Despite the fact that Copy Number Variations are the most prevalent genetic mutation type, identifying and interpreting them is still a major challenge. The ELIXIR human Copy Number Variation (hCNV) Community aims to implement processes to make the detection, annotation and interpretation of these variations easier.

ELIXIR Health Data Focus Group

Goal: Over recent years there has been an increase in the availability of health data for research.  A range of legal, ethical, and technical arguments limit the use of existing/traditional research data repositories for hosting and sharing a broad spectrum of health data.  This Focus Group (FG) will work towards developing common services, processes, and policies to enhance the potential use of health data in research across ELIXIR Nodes.  Anonymised/pseudonymised health data (e.g. omics, clinical, administrative, wearables/lifestyle) that have been consented for research are considered in scope, while the collection of identifiable routine clinical data in healthcare systems are out of scope. This FG will prioritise use cases in response to prevailing health-related challenges and opportunities, with initial efforts directed towards infectious diseases and complex diseases.

Topics: Identifying alignments across Nodes and distilling best practices will enable us to produce recommendations to ELIXIR in three principal areas.  Firstly, finding and uniting health data by applying FAIR data principles and interoperability data standards.  Secondly, improving health data through optimised curation and terminology mappings, and extracting useful information  from unstructured electronic health records (EHRs). Thirdly, using health data in safe and controlled trusted research environments which ensures data controllers and users comply with GDPR and other relevant data governance requirements. 

ELIXIR::GA4GH Strategic Partnership

Goal: Large cohorts, with potentially millions of participants, are needed to understand the genetic and molecular signatures of diseases, and they provide a cornerstone for the creation of personalised treatments. To enable such datasets, over 200 genomic data initiatives are underway worldwide. However, national efforts will not be sufficient, and in recognition of this 20 European countries recently signed a Declaration to sequence and provide transnational access to at least 1M human genomes by 2022. Collectively, the European Declaration together with similar initiatives around the globe, will generate exabytes of data from millions of participants.

The ELIXIR::GA4GH Strategic Partnership will facilitate the responsible sharing of these sensitive data across Europe in order to help create virtual cohorts with tens of millions of participants.