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The Human Variome Project

An NGO maintaining operational relations with the United Nations Educational, Scientific and Cultural Organisation (UNESCO)

The Human Variome Project is an international non-governmental organisation that is working to ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly.

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The HGVS meeting Copy Number Variation - data collection and analysis will be held as a one-day satellite event to the European Society of Human Genetics' annual meeting in Goteborg, Sweden on Friday 14th June. If you are going to ESHG this is a great opportunity to attend

Copy Number Variations or CNV are major causative contributors in the genesis of rare and common genetic diseases as well as human tumors. Despite their importance, their detection, collection, annotation and interpretation are still in their youth and much remains to be done. With the developments of the Next-Generation Sequencing technologies, especially Whole Genome Sequencing, which is increasingly becoming the primary choice for genomic screening analysis, new algorithms to efficiently detect all CNV types ranging from single exon to large genomic regions, and from germline to somatic events, are needed.

The aim of this Human Genome Variation Society meeting is to provide an overview of the most recent advances on this topic at the international level and to address more specifically;

  1. CNV detection pipelines
  2. availability of reference datasets
  3. data collection and sharing in FAIR environments, including specifications related to data formats and annotations required for efficient data interpretation; and
  4. specific tools for CNV interpretation. 

To speed-up international collaboration, a new Human Copy Number Variations Community (h-CNV) was created within ELIXIR. It will work in close interaction with the Global Alliance for Genomic and Health (GA4GH), the European Joint Project for Rare Diseases (EJP-RD) and other international initiatives. 


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