The ELIXIR human copy number variations community: building bioinformatics infrastructure for research
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- dc.contributor.author Salgado, David
- dc.contributor.author Beltran, Sergi
- dc.contributor.author Furlong, Laura I., 1971-
- dc.contributor.author Gut, Ivo Glynne
- dc.contributor.author Laurie, Steven, 1973-
- dc.contributor.author Marquès i Bonet, Tomàs, 1975-
- dc.contributor.author Piñero González, Janet, 1977-
- dc.contributor.author Sanz, Ferran
- dc.contributor.author Béroud, Christophe
- dc.date.accessioned 2022-04-29T10:41:54Z
- dc.date.available 2022-04-29T10:41:54Z
- dc.date.issued 2020
- dc.description.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 h uman 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.
- dc.description.sponsorship 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
- dc.format.mimetype application/pdf
- dc.identifier.citation Salgado D, Armean IM, Baudis M, Beltran S, Capella-Gutierrez S, Carvalho-Silva D et al. The ELIXIR human copy number variations community: building bioinformatics infrastructure for research. F1000Res. 2020 Oct 13;9:ELIXIR-1229. DOI: 10.12688/f1000research.24887
- dc.identifier.doi http://dx.doi.org/10.12688/f1000research.24887.1
- dc.identifier.issn 2046-1402
- dc.identifier.uri http://hdl.handle.net/10230/52947
- dc.language.iso eng
- dc.publisher F1000Research
- dc.rights © 2020 Salgado D et al. This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- dc.rights.uri https://creativecommons.org/licenses/by/4.0/
- dc.subject.other Malalties
- dc.subject.other Malalties congènites
- dc.subject.other Malalties -- Diagnòstic
- dc.subject.other Genòmica
- dc.title The ELIXIR human copy number variations community: building bioinformatics infrastructure for research
- dc.type info:eu-repo/semantics/article
- dc.type.version info:eu-repo/semantics/publishedVersion