TY - JOUR T1 - The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research. JF - F1000Res Y1 - 2020 A1 - Salgado, David A1 - Armean, Irina M A1 - Baudis, Michael A1 - Beltran, Sergi A1 - Capella-Gutíerrez, Salvador A1 - Carvalho-Silva, Denise A1 - Dominguez Del Angel, Victoria A1 - Dopazo, Joaquin A1 - Furlong, Laura I A1 - Gao, Bo A1 - Garcia, Leyla A1 - Gerloff, Dietlind A1 - Gut, Ivo A1 - Gyenesei, Attila A1 - Habermann, Nina A1 - Hancock, John M A1 - Hanauer, Marc A1 - Hovig, Eivind A1 - Johansson, Lennart F A1 - Keane, Thomas A1 - Korbel, Jan A1 - Lauer, Katharina B A1 - Laurie, Steve A1 - Leskošek, Brane A1 - Lloyd, David A1 - Marqués-Bonet, Tomás A1 - Mei, Hailiang A1 - Monostory, Katalin A1 - Piñero, Janet A1 - Poterlowicz, Krzysztof A1 - Rath, Ana A1 - Samarakoon, Pubudu A1 - Sanz, Ferran A1 - Saunders, Gary A1 - Sie, Daoud A1 - Swertz, Morris A A1 - Tsukanov, Kirill A1 - Valencia, Alfonso A1 - Vidak, Marko A1 - Yenyxe González, Cristina A1 - Ylstra, Bauke A1 - Béroud, Christophe KW - Computational Biology KW - DNA Copy Number Variations KW - High-Throughput Nucleotide Sequencing KW - Humans AB -

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.

VL - 9 U1 - https://www.ncbi.nlm.nih.gov/pubmed/34367618?dopt=Abstract ER -