The ELIXIR hCNV Community - Making complex genomics accessible
This webinar is part of a series run by the ELIXIR with over 100 videos covering a range of different activities, these are all found on the ELIXIR YouTube Channel.
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
