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

TitleThe ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.
Publication TypeJournal Article
Year of Publication2020
AuthorsSalgado, D, Armean, IM, Baudis, M, Beltran, S, Capella-Gutíerrez, S, Carvalho-Silva, D, Del Angel, VDominguez, Dopazo, J, Furlong, LI, Gao, B, Garcia, L, Gerloff, D, Gut, I, Gyenesei, A, Habermann, N, Hancock, JM, Hanauer, M, Hovig, E, Johansson, LF, Keane, T, Korbel, J, Lauer, KB, Laurie, S, Leskošek, B, Lloyd, D, Marqués-Bonet, T, Mei, H, Monostory, K, Piñero, J, Poterlowicz, K, Rath, A, Samarakoon, P, Sanz, F, Saunders, G, Sie, D, Swertz, MA, Tsukanov, K, Valencia, A, Vidak, M, González, CYenyxe, Ylstra, B, Béroud, C
Start Page1229
Date Published2020
KeywordsComputational Biology; DNA Copy Number Variations; High-Throughput Nucleotide Sequencing; Humans

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 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.

Alternate JournalF1000Res
PubMed ID34367618
PubMed Central IDPMC8311797