The ELIXIR hCNV Community - Making complex genomics accessible

Thu 16 May 2024, 15:00


Genomic copy number variants (CNV) are a major contributor to human genome variation and important factors in rare disease genetics and cancer genomics. However, the complexity of CNV detection technologies, the lack of standardised annotation formats and the fragmentation of cytogenetic and genomic communities so far has limited large scale utilization of CNV profiles in computational genomics. Here, the ELIXIR hCNV community provides a group of experts with various (cyto-)genetic, genomic and computational backgrounds, working on common standards, implementations, workflows, training and documentation relevant for structural genome variation analysis, utilization and data sharing aspects.



Dr Michael Baudis

The University of Zurich

Dr Antonio Rausell  

Imagine Institute of Genetic Diseases

  Dr Krzysztof


  The University of Bradford



    1. Implementation driven development of CNV representation

        standards and variant discovery protocols

    2. hCNV Galaxy ecosystem  



  • Dr. Michael Baudis (The University of Zurich)
  • Dr Krzysztof Poterlowicz (University of Bradford)
  • Dr. Antonio Rausell (Imagine Institute of Genetic Disease)



Event administration: David Lloyd (