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

F1000Res. 2020 Oct 13:9:ELIXIR-1229. doi: 10.12688/f1000research.24887.1. eCollection 2020.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computational Biology*
  • DNA Copy Number Variations* / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans

Grants and funding

The first ELIXIR hCNV Community meeting held in Hinxton (UK) was supported by ELIXIR. The authors declare that no grants were involved in supporting this work.