Improving the FAIRification of human copy number variation information

A 24-month project involving ten ELIXIR Nodes has led to improved standardisation of the storage and analysis of human copy number variation (hCNV) data. hCNVs are repeated sections of the genome which vary between individuals and have been found to contribute to many human diseases. Standardising hCNV data will help understand why some of these diseases occur and accelerate the discovery of diagnostic tests and therapeutics.

Data standards ensure that the results of one experiment can be combined with the results from other experiments to create sufficient data to draw robust conclusions. Making data more open, standardised and easier to combine is based on FAIR principles (making data findable, accessible, interoperable, and reusable).

The project, funded by ELIXIR, aimed to make hCNV data more FAIR by optimising detection pipelines, improving exchange formats and defining reference datasets. An additional ambition was building and coordinating hCNV expertise in ELIXIR.

The outcomes of the project include community standards, resources, and tools, as well as three biohackathons and a conference. The project also built strong connections with ELIXIR groups, such as Galaxy,, Beacon, OpenEbench, containers, and benchmarking, and worked closely with external expert groups, including EOSC-Pillar, GA4GH and TransBioNet.

The impact of the project has been significant, with research and diagnostic labs around the world now having greater access to hCNV resources, guidelines, and documents. The provision of global genomic data exchange and representation standards is one of the prerequisites for the expansion of biomedical genomics. As a result of the study, ELIXIR partners are now better equipped to implement hCNV projects with ready access to experts.

Overall, the project has paved the way for improved standards in the field of hCNV, which will have a positive impact on research, diagnostics, and ultimately, patient care.

ELIXIR Nodes involved


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Mon 27 February 2023