The ELIXIR hCNV Community - Making complex genomics accessible

ELIXIR Webcast

Michael Baudis, Antonio Rausell & Krzysztof Poterlowicz

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.