The ELIXIR Community on Human Copy Number Variations (hCNV) has presented its work programme. In a paper published in the ELIXIR F1000R gateway, the Community defines seven strategic objectives to support human CNV detection and interpretation:
- Optimal CNV detection pipelines.
- Definition of reference datasets.
- Data exchange formats.
- Identification of patients with similar genotypes and phenotypes through the use of services like Beacon or Phenopackets.
- Creation of innovative tools.
- FAIRification of hCNV services and datasets.
- Dissemination activities to increase the reach of the community within ELIXIR and beyond.
Copy Number Variations represent the most common type of genetic mutations associated with multiple human traits and diseases. However, the reliable identification and consistent interpretation of CNVs is still a major challenge. Here, a lack of ‘gold standard’ datasets serving all CNV applications hinders the development of new methods and leads to mutually incompatible solutions and duplication of efforts.
The ELIXIR hCNV Community was established in December 2018 to address these challenges by coordinating the development of new methods for CNV research and supporting the establishment of common standards for analysis and exchange of CNV data.
The seven strategic objectives described in the F1000 paper represent a consensus among researchers from eleven participating ELIXIR Nodes in terms of priorities and national preferences.
Besides these objectives, the paper also outlines interactions and links with other ELIXIR Communities and ELIXIR Platforms. For example, the hCNV Community has worked with the ELIXIR Tools Platform to develop a catalogue of research software in the field and is currently designing benchmarking strategies for some of those tools. The ELIXIR Data Platform will collaborate with the hCNV Community on identifying deposition databases for CNV data and the Interoperability Platform will support the development of recommendations for CNV reporting formats.
The hCNV Community has been already working on several tasks in the framework of the first Implementation Study, which kicked-off in June 2019 to support the integration of the Community into ELIXIR.