Abstract:

            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.

         








            Speakers










                            Dr Michael Baudis

                            The University of Zurich


                            Dr Antonio Rausell  

                            Imagine Institute of Genetic Diseases


                              Dr Krzysztof

                              Poterlowicz 

                              The University of Bradford




                             





            Talks: 

                1. Implementation driven development of CNV representation

                    standards and variant discovery protocols

                2. hCNV Galaxy ecosystem