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

David Salgado; Christophe Béroud; Irina M. Armean; Michael Baudis; Sergi Beltran; Salvador Capella-Gutierrez; Denise Carvalho-Silva; Victoria Dominguez del Angel; Joaquin Dopazo; Laura I. Furlong; Bo Gao; Leyla Garcia; Dietlind Gerloff; Ivo Gut; Attila Gyenesei; Nina Habermann; John M. Hancock; Marc Hanauer; Eivind Hovig; Lennart F. Johansson; Thomas Keane; Jan Korbel; Katharina B. Lauer; Steve Laurie; Brane Leskošek; David Lloyd; Tomas Marques-Bonet; Hailiang Mei; Katalin Monostory; Janet Piñero; Krzysztof Poterlowicz; Ana Rath; Pubudu Samarakoon; Ferran Sanz; Gary Saunders; Daoud Sie; Morris A. Swertz; Kirill Tsukanov; Alfonso Valencia; Marko Vidak; Cristina Yenyxe González; Bauke Ylstra

doi:https://doi.org/10.12688/f1000research.24887.1

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

David Salgado, Christophe Béroud, Irina M. Armean, Michael Baudis, Sergi Beltran, Salvador Capella-Gutierrez, Denise Carvalho-Silva, Victoria Dominguez del Angel, Joaquin Dopazo, Laura I. Furlong, Bo Gao, Leyla Garcia, Dietlind Gerloff, Ivo Gut, Attila Gyenesei, Nina Habermann, John M. Hancock, Marc Hanauer, Eivind Hovig, Lennart F. JohanssonThomas Keane, Jan Korbel, Katharina B. Lauer, Steve Laurie, Brane Leskošek, David Lloyd, Tomas Marques-Bonet, Hailiang Mei, Katalin Monostory, Janet Piñero, Krzysztof Poterlowicz, Ana Rath, Pubudu Samarakoon, Ferran Sanz, Gary Saunders, Daoud Sie, Morris A. Swertz, Kirill Tsukanov, Alfonso Valencia, Marko Vidak, Cristina Yenyxe González, Bauke Ylstra

Research output: Contribution to journal › Article › Academic › peer-review

4 Citations (Scopus)

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.

Original language	English
Article number	1229
Journal	F1000Research
Volume	9
DOIs	https://doi.org/10.12688/f1000research.24887.1
Publication status	Published - 2020

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Salgado, D., Béroud, C., Armean, I. M., Baudis, M., Beltran, S., Capella-Gutierrez, S., Carvalho-Silva, D., Dominguez del Angel, V., Dopazo, J., Furlong, L. I., Gao, B., Garcia, L., Gerloff, D., Gut, I., Gyenesei, A., Habermann, N., Hancock, J. M., Hanauer, M., Hovig, E., ... Ylstra, B. (2020). The ELIXIR Human Copy Number Variations Community: Building bioinformatics infrastructure for research. F1000Research, 9, Article 1229. https://doi.org/10.12688/f1000research.24887.1

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title = "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 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.",

author = "David Salgado and Christophe B{\'e}roud and Armean, {Irina M.} and Michael Baudis and Sergi Beltran and Salvador Capella-Gutierrez and Denise Carvalho-Silva and {Dominguez del Angel}, Victoria and Joaquin Dopazo and Furlong, {Laura I.} and Bo Gao and Leyla Garcia and Dietlind Gerloff and Ivo Gut and Attila Gyenesei and Nina Habermann and Hancock, {John M.} and Marc Hanauer and Eivind Hovig and Johansson, {Lennart F.} and Thomas Keane and Jan Korbel and Lauer, {Katharina B.} and Steve Laurie and Brane Lesko{\v s}ek and David Lloyd and Tomas Marques-Bonet and Hailiang Mei and Katalin Monostory and Janet Pi{\~n}ero and Krzysztof Poterlowicz and Ana Rath and Pubudu Samarakoon and Ferran Sanz and Gary Saunders and Daoud Sie and Swertz, {Morris A.} and Kirill Tsukanov and Alfonso Valencia and Marko Vidak and {Yenyxe Gonz{\'a}lez}, Cristina and Bauke Ylstra",

year = "2020",

doi = "https://doi.org/10.12688/f1000research.24887.1",

language = "English",

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journal = "F1000Research",

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Salgado, D, Béroud, C, Armean, IM, Baudis, M, Beltran, S, Capella-Gutierrez, S, Carvalho-Silva, D, Dominguez del Angel, V, 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, Marques-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, Yenyxe González, C & Ylstra, B 2020, 'The ELIXIR Human Copy Number Variations Community: Building bioinformatics infrastructure for research', F1000Research, vol. 9, 1229. https://doi.org/10.12688/f1000research.24887.1

TY - JOUR

T1 - The ELIXIR Human Copy Number Variations Community: Building bioinformatics infrastructure for research

AU - Salgado, David

AU - Béroud, Christophe

AU - Armean, Irina M.

AU - Baudis, Michael

AU - Beltran, Sergi

AU - Capella-Gutierrez, Salvador

AU - Carvalho-Silva, Denise

AU - Dominguez del Angel, Victoria

AU - Dopazo, Joaquin

AU - Furlong, Laura I.

AU - Gao, Bo

AU - Garcia, Leyla

AU - Gerloff, Dietlind

AU - Gut, Ivo

AU - Gyenesei, Attila

AU - Habermann, Nina

AU - Hancock, John M.

AU - Hanauer, Marc

AU - Hovig, Eivind

AU - Johansson, Lennart F.

AU - Keane, Thomas

AU - Korbel, Jan

AU - Lauer, Katharina B.

AU - Laurie, Steve

AU - Leskošek, Brane

AU - Lloyd, David

AU - Marques-Bonet, Tomas

AU - Mei, Hailiang

AU - Monostory, Katalin

AU - Piñero, Janet

AU - Poterlowicz, Krzysztof

AU - Rath, Ana

AU - Samarakoon, Pubudu

AU - Sanz, Ferran

AU - Saunders, Gary

AU - Sie, Daoud

AU - Swertz, Morris A.

AU - Tsukanov, Kirill

AU - Valencia, Alfonso

AU - Vidak, Marko

AU - Yenyxe González, Cristina

AU - Ylstra, Bauke

PY - 2020

Y1 - 2020

N2 - 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.

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 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.

UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85110279035&origin=inward

UR - https://www.ncbi.nlm.nih.gov/pubmed/34367618

U2 - https://doi.org/10.12688/f1000research.24887.1

DO - https://doi.org/10.12688/f1000research.24887.1

M3 - Article

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SN - 2046-1402

VL - 9

JO - F1000Research

JF - F1000Research

M1 - 1229

ER -

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

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