Evidence map›Paper›PMID 34367618›Full record

ArticleF1000Research2020

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

David Salgado, Irina M Armean, Michael Baudis, Sergi Beltran, Salvador Capella-Gutierrez, Denise Carvalho-Silva, Victoria Dominguez Del Angel, Joaquin Dopazo, Laura I Furlong, Bo Gao and 32 more

Open access · goldAbstract read
In one paragraph

Article in F1000Research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.4field-weighted citation impact, top 46% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Progress in Methods for Copy Number Variation Profiling.International journal of molecular sciences · 2022
    Review
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

42 authors at 19 institutions in 10 countries.

David SalgadoAix Marseille Univ, INSERM, MMG, Marseille, France.ORCID 0000-0002-5905-3591
Irina M ArmeanEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.
Michael BaudisDepartment of Molecular Life Sciences and Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland.ORCID 0000-0002-9903-4248
Sergi BeltranCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri Reixac 4, Barcelona 08028, Spain.
Salvador Capella-GutierrezBarcelona Supercomputing Center (BSC), Barcelona, Spain.ORCID 0000-0002-0309-604X
Denise Carvalho-SilvaEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.ORCID 0000-0001-5662-1840
Victoria Dominguez Del AngelInstitut Français de Bioinformatique, UMS3601-CNRS, CNRS, Paris, France.ORCID 0000-0002-5514-6651
Joaquin DopazoClinical Bioinformatics Area, Fundación Progreso y Salud, CDCA, Hospital Virgen del Rocio, Sevilla, Spain.ORCID 0000-0003-3318-120X
Laura I FurlongResearch 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 GaoDepartment of Molecular Life Sciences and Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland.ORCID 0000-0003-2818-4000
Leyla GarciaEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.ORCID 0000-0003-3986-0510
Dietlind GerloffLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.
Ivo GutCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri Reixac 4, Barcelona 08028, Spain.
Attila GyeneseiSzentágothai Research Center, University of Pécs, Pécs, Hungary.
Nina HabermannGenome Biology, European Molecular Biological Laboratory, Heidelberg, Germany.
John M HancockELIXIR Hub, Hinxton, UK.ORCID 0000-0003-2991-2217
Marc HanauerOrphanet, INSERM, Paris, France.
Eivind HovigDepartment of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-9103-1077
Lennart F JohanssonDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Thomas KeaneEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.
Jan KorbelGenome Biology, European Molecular Biological Laboratory, Heidelberg, Germany.
Katharina B LauerELIXIR Hub, Hinxton, UK.ORCID 0000-0002-4347-7525
Steve LaurieCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri Reixac 4, Barcelona 08028, Spain.
Brane LeskošekFaculty of Medicine - ELIXIR Slovenia, University of Ljubljana, Ljubljana, Slovenia.
David LloydELIXIR Hub, Hinxton, UK.ORCID 0000-0003-1222-5912
Tomas Marques-BonetInstitute of Evolutionary Biology (UPF-CSIC), Catalan Institution for Research and Advanced Studies, Barcelona, Spain.
Hailiang MeiSequencing Analysis Support Core, Leiden University Medical Center, Leiden, The Netherlands.
Katalin MonostoryInstitute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary.
Janet PiñeroResearch 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 PoterlowiczCentre for Skin Sciences, University of Bradford, Bradford, UK.ORCID 0000-0001-6173-5674
Ana RathOrphanet, INSERM, Paris, France.
Pubudu SamarakoonDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Ferran SanzResearch 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 SaundersELIXIR Hub, Hinxton, UK.ORCID 0000-0002-7468-0008
Daoud SieDepartment of Clinical Genetics, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Morris A SwertzDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Kirill TsukanovEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.ORCID 0000-0003-1573-5782
Alfonso ValenciaBarcelona Supercomputing Center (BSC), Barcelona, Spain.
Marko VidakFaculty of Medicine - ELIXIR Slovenia, University of Ljubljana, Ljubljana, Slovenia.
Cristina Yenyxe GonzálezEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.
Bauke YlstraDepartment of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Christophe BéroudAix Marseille Univ, INSERM, MMG, Marseille, France.
European Bioinformatics Institute · GBUniversitat Pompeu Fabra · ESInserm · FRAmsterdam University Medical Centers · NLEuropean Molecular Biology Laboratory · DEInstitució Catalana de Recerca i Estudis Avançats · ESOslo University Hospital · NOSIB Swiss Institute of Bioinformatics · CHUniversity Medical Center Groningen · NLUniversity of Ljubljana · SIBarcelona Supercomputing Center · ESCentre for Genomic Regulation · ESCentre National de la Recherche Scientifique · FRFundación Progreso y Salud · ESInstitute of Molecular Life Sciences · HULeiden University Medical Center · NLUniversity of Bradford · GBUniversity of Luxembourg · LUUniversity of Pecs · HU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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

Indexed as

Computational BiologyDNA Copy Number VariationsHigh-Throughput Nucleotide SequencingHumansCommon DiseasesCopy Number VariationData analysisFederated Human DataHuman Geneticsnext-generation sequencingOncogeneticswhole genome sequencing

Identifiers

PMID34367618
PMCPMC8311797
OpenAlexW3093456527

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.