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

Computational Biology DNA Copy Number Variations / genetics High-Throughput Nucleotide Sequencing Humans
Common Diseases Copy Number Variation Data analysis Federated Human Data Human Genetics Oncogenetics next-generation sequencing whole genome sequencing

Journal

F1000Research
ISSN: 2046-1402
Titre abrégé: F1000Res
Pays: England
ID NLM: 101594320

Informations de publication

Date de publication:
2020
Historique:
accepted: 27 07 2020
entrez: 9 8 2021
pubmed: 10 8 2021
medline: 19 8 2021
Statut: epublish

Résumé

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

Identifiants

DOI: 10.12688/f1000research.24887.1 PMID: 34367618 PMC: PMC8311797
pubmed: 34367618
doi: 10.12688/f1000research.24887.1
pmc: PMC8311797
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright: © 2020 Salgado D et al.

Déclaration de conflit d'intérêts

No competing interests were disclosed.

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Auteurs

David Salgado (D)

Aix Marseille Univ, INSERM, MMG, Marseille, France.
ORCID: 0000-0002-5905-3591

Irina M Armean (IM)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.

Michael Baudis (M)

Department of Molecular Life Sciences and Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland.
ORCID: 0000-0002-9903-4248

Sergi Beltran (S)

CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri Reixac 4, Barcelona 08028, Spain.
Universitat Pompeu Fabra (UPF), Barcelona, Spain.

Salvador Capella-Gutierrez (S)

Barcelona Supercomputing Center (BSC), Barcelona, Spain.
Spanish National Bioinformatics Institute (INB)/ELIXIR-ES, Barcelona, Spain.
ORCID: 0000-0002-0309-604X

Denise Carvalho-Silva (D)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.
Open Targets, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK.
ORCID: 0000-0001-5662-1840

Victoria Dominguez Del Angel (V)

Institut Français de Bioinformatique, UMS3601-CNRS, CNRS, Paris, France.
ORCID: 0000-0002-5514-6651

Joaquin Dopazo (J)

Clinical Bioinformatics Area, Fundación Progreso y Salud, CDCA, Hospital Virgen del Rocio, Sevilla, Spain.
ORCID: 0000-0003-3318-120X

Laura I Furlong (LI)

Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Pompeu Fabra University (UPF), Barcelona, Spain.
ORCID: 0000-0002-9383-528X

Bo Gao (B)

Department of Molecular Life Sciences and Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland.
ORCID: 0000-0003-2818-4000

Leyla Garcia (L)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.
ZB MED Information Centre for Life Sciences, Cologne, Germany.
ELIXIR Hub, Hinxton, UK.
ORCID: 0000-0003-3986-0510

Dietlind Gerloff (D)

Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.

Ivo Gut (I)

CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri Reixac 4, Barcelona 08028, Spain.
Universitat Pompeu Fabra (UPF), Barcelona, Spain.

Attila Gyenesei (A)

Szentágothai Research Center, University of Pécs, Pécs, Hungary.

Nina Habermann (N)

Genome Biology, European Molecular Biological Laboratory, Heidelberg, Germany.

John M Hancock (JM)

ELIXIR Hub, Hinxton, UK.
ORCID: 0000-0003-2991-2217

Marc Hanauer (M)

Orphanet, INSERM, Paris, France.

Eivind Hovig (E)

Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.
Centre for bioinformatics, Department of Informatics, University of Oslo, Oslo, Norway.
ORCID: 0000-0002-9103-1077

Lennart F Johansson (LF)

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Thomas Keane (T)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.

Jan Korbel (J)

Genome Biology, European Molecular Biological Laboratory, Heidelberg, Germany.

Katharina B Lauer (KB)

ELIXIR Hub, Hinxton, UK.
ORCID: 0000-0002-4347-7525

Steve Laurie (S)

CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri Reixac 4, Barcelona 08028, Spain.

Brane Leskošek (B)

Faculty of Medicine - ELIXIR Slovenia, University of Ljubljana, Ljubljana, Slovenia.

David Lloyd (D)

ELIXIR Hub, Hinxton, UK.
ORCID: 0000-0003-1222-5912

Tomas Marques-Bonet (T)

Institute of Evolutionary Biology (UPF-CSIC), Catalan Institution for Research and Advanced Studies, Barcelona, Spain.

Hailiang Mei (H)

Sequencing Analysis Support Core, Leiden University Medical Center, Leiden, The Netherlands.

Katalin Monostory (K)

Institute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary.

Janet Piñero (J)

Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Pompeu Fabra University (UPF), Barcelona, Spain.
ORCID: 0000-0003-1244-7654

Krzysztof Poterlowicz (K)

Centre for Skin Sciences, University of Bradford, Bradford, UK.
ORCID: 0000-0001-6173-5674

Ana Rath (A)

Orphanet, INSERM, Paris, France.

Pubudu Samarakoon (P)

Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

Ferran Sanz (F)

Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Pompeu Fabra University (UPF), Barcelona, Spain.

Gary Saunders (G)

ELIXIR Hub, Hinxton, UK.
ORCID: 0000-0002-7468-0008

Daoud Sie (D)

Department of Clinical Genetics, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Morris A Swertz (MA)

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Kirill Tsukanov (K)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.
ORCID: 0000-0003-1573-5782

Alfonso Valencia (A)

Barcelona Supercomputing Center (BSC), Barcelona, Spain.
Spanish National Bioinformatics Institute (INB)/ELIXIR-ES, Barcelona, Spain.
Catalan Institution of Research and Advanced Studies, Barcelona, Spain.

Marko Vidak (M)

Faculty of Medicine - ELIXIR Slovenia, University of Ljubljana, Ljubljana, Slovenia.

Cristina Yenyxe González (C)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.

Bauke Ylstra (B)

Department of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Christophe Béroud (C)

Aix Marseille Univ, INSERM, MMG, Marseille, France.
Département de Génétique Médicale et de Biologie Cellulaire, APHM, Hôpital d'enfants de la Timone, 13385 Marseille, France.

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Classifications MeSH

questionsmedicales.fr › Sciences de l'information › Informatique › Biologie informatique › The ELIXIR Human Copy Number Variations...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Variation structurale du génome › Variations de nombre de copies de segment d'ADN › The ELIXIR Human Copy Number Variations...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › The ELIXIR Human Copy Number Variations...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The ELIXIR Human Copy Number Variations...