Human Genomics and Translational Data (HGTD)

ELIXIR Human Genomics and Translational Data (HGTD)

Purpose: Coordination and interaction across the ELIXIR HGTD structures, with regular interaction (e.g. presentation, discussion, representation) from the other parts of ELIXIR (e.g. ELIXIR Director, Platforms, Project Management Unit, and External Relations).

The goals of ELIXIR HGTD are described in this roadmap document.

To achieve these goals the work is split into eight groups:

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. 



Serena.Scollen [at] (Serena Scollen) Head of Human Genomics and Translational Data

arshiya.merchant [at] (Arshiya Merchant) Human Data Science Officer

david.lloyd [at] (David Lloyd) Technical Project Coordinator

Monthly meeting Agenda (inc. joining details) 
3rd Tuesday of the month, 12.00 CET /CEST

Mailing listhdcs [at]

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.



ilkka.lappalainen [at] (Ilkka Lappalainen) (ELIXIR-FI)

jordi.rambla [at] (Jordi Rambla) (ELIXIR-ES)

tk2 [at] (Thomas Keane) (ELIXIR-EBI) 

ELIXIR Commissioned Service 

Monthly meeting Agenda (inc. joining details) 
1st Tuesday of the month, 14.00 CET /CEST

Mailing listfhd [at] 

ELIXIR Rare Diseases Community (RD)

Goal: To create a federated infrastructure that will enable researchers to discover, access and analyse different rare disease repositories across Europe. This work is in partnership with other European infrastructure projects, namely EJP-RD, RD-CONNECT, BBMRI-ERIC, and E-Rare.



ivo.gut [at] (Ivo Gut) (ELIXIR-ES) 

m.roos [at] (Marco Roos) (ELIXIR-NL) 

sergi.beltran [at] (Sergi Beltran) (ELIXIR-ES)

ELIXIR Commissioned Service 

Monthly meeting Agenda (inc. joining details) 
1st Monday of the month, 15.00 CET /CEST

Mailing lists: 

rare-disease-community [at]
rare-disease-pm [at]

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.



mbaudis [at] (Michael Baudis )(ELIXIR-CH)

christophe.beroud [at] (Christophe Béroud) (ELIXIR-FR) 

david.salgado [at] (David Salgado) (ELIXIR-FR) 

ELIXIR Commissioned Service 

Monthly meeting Agenda (inc. joining details) 
2nd & 4th Thursday of the month, 14.00 CET /CEST

Mailing list: hcnv [at]

ELIXIR Cancer Data Focus Group 

Goal: A core activity in scope for this Focus Group is to present “Gold Standard” examples from ELIXIR Nodes (e.g. research institutes, hospitals & clinics) in working with cancer related data in order to highlight the opportunities arising from data, tools and platform interoperability, and to promote the added value from unobstructed data sharing of cancer data for biomedical research and applications.

Topics: In the field of cancer there are many challenges e.g. tumour heterogeneity; investigation of new enzymes; the fight against contamination; tumour evolution; cancer progression; harmonization of data from electronic health records. The objective of this Focus Group is to discuss the common bioinformatic needs that Use Cases of working within the cancer field pose to the ELIXIR Nodes. A planned outcome is the publication of a positioning paper on recommendations from ELIXIR on cancer data related best practices, and where the bioinformatic infrastructure gaps are across Europe in working with cancer data.



macha.nikolski [at] (Macha Nikolski) (ELIXIR-FR)

ehovig [at] (Eivind Hovig) (ELIXIR-NO)

falshahrour [at] (Fatima Al-Shahrour) (ELIXIR-ES)

Monthly meeting Document (inc. joining details) 
4th Thursday of the month, 16.00 CET /CEST

Mailing list: Cancer_data_focus_group [at] ">Cancer_data_focus_group [at]  

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. 



timbeck [at] (Tim Beck) (ELIXIR-UK)

venkata.satagopam [at] (Venkata Satagopam )(ELIXIR-LU)

Arshiya.merchant [at] (Arshiya Merchant) Hub Coordinator 

Monthly meeting Document (inc. joining details) 
Every 2nd & 4th Thursday of the month, 15.00 CET /CEST

Mailing list: health-data-focus-group [at] ">health-data-focus-group [at]  


Goal: ELIXIR Beacon is a GA4GH Driver Project with full alignment to GA4GH Technical Work Streams and aims to consolidate and establish a fully costed process of “Lighting a Beacon” for any ELIXIR Node and deliver Beacon/Beacon Network as an established ELIXIR infrastructure service.



jordi.rambla [at] (Jordi Rambla) (ELIXIR-ES)

juha.tornroos [at] (Juha Tornroos) (ELIXIR-FI)

michael.baudis [at] (Michael Baudis) (ELIXIR-CH) 

spalding [at] (Dylan Spalding) (EMBL-EBI)

ELIXIR Commissioned Service 

Monthly meeting  Agenda (inc. joining details) 
4th Tuesday of the month, 16.00 CET /CEST

Mailing list: beacon [at]

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.



serena.scollen [at] (Serena Scollen) (ELIXIR-Hub) 

peter.goodhand [at] (Peter Goodhand) (GA4GH)

birney [at] (Ewan Birney) (ELIXIR-EBI) 

Strategic Partnership Announcement

Partnership document 

Quarterly meeting, details circulated


Mailing lists: 

ga4gh_elixir_all [at] (All Participants) (meet March & September) 

ga4gh_elixir_sp [at] (ELIXIR Participants) (meet June & December)


Serena Scollen
serena.scollen [at] (Serena Scollen)
Head of Human Genomics and Translational Data
Arshiya Merchantarshiya.merchant [at] (Arshiya Merchant)
Human Data Science Officer
David Lloyddavid.lloyd [at] (David Lloyd)
Project Technical Coordinator

Find out more

  • Contact Gary Saunders (serena.scollen [at] to learn how you can get involved with Human Genomics & Translational Data and how this work can help you.