The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

Abstract

Copy number variations (CNVs) are major causative contributors both in the genesis of genetic diseases and human neoplasias. While "High-Throughput" sequencing technologies are increasingly becoming the primary choice for genomic screening analysis, their ability to efficiently detect CNVs is still heterogeneous and remains to be developed. The aim of this white paper is to provide a guiding framework for the future contributions of ELIXIR's recently established human CNV Community, with implications beyond human disease diagnostics and population genomics. This white paper is the direct result of a strategy meeting that took place in September 2018 in Hinxton (UK) and involved representatives of 11 ELIXIR Nodes. The meeting led to the definition of priority objectives and tasks, to address a wide range of CNV-related challenges ranging from detection and interpretation to sharing and training. Here, we provide suggestions on how to align these tasks within the ELIXIR Platforms strategy, and on how to frame the activities of this new ELIXIR Community in the international context.

Keywords: Common Diseases; Copy Number Variation; Data analysis; Federated Human Data; Human Genetics; Oncogenetics; next-generation sequencing; whole genome sequencing.

Figure 1.. Interactions of the hCNV Community objectives with the ELIXIR platforms.

Left: ELIXIR Platforms; Right: ELIXIR hCNV Community objectives.

Figure 2.. Interactions of the hCNV Community with the ELIXIR Communities.

Left: vertical interaction with all of the current ELIXIR Human Data Communities (Federated Human Data and Rare Diseases). Right: It is predicted that the ELIXIR hCNV Community will interact with other ELIXIR Communities, such as Marine Metagenomics and Plant Sciences; relationships to other ELIXIR Communities will be investigated and developed over time.