Human Copy Number Variation

The hCNV Community aims to improve the detection, annotation, and interpretation of Copy Number Variations (CNVs), one of the most prevalent types of genetic mutations. CNVs are important for both evolutionary processes and human disease, yet remain difficult to analyse due to the lack of standardised tools and reference data.

This Community brings together experts across ELIXIR to address these challenges by developing shared methods, datasets, and resources.

Relevant activities:

• Benchmarking CNV detection tools and defining optimal pipelines
• Creating validated somatic and germline CNV reference datasets
• Developing and recommending standard data exchange formats
• Enabling patient-matching based on genotype and phenotype
• Designing innovative tools to annotate and interpret CNVs
• Applying FAIR principles to CNV-related services and databases
• Organising meetings and training events to share knowledge and tools