The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research Article Swipe
David Salgado
,
Irina M. Armean
,
Michael Baudis
,
Sergi Beltrán
,
Salvador Capella‐Gutierrez
,
Denise Carvalho‐Silva
,
Victoria Domínguez Del Angel
,
Joaquı́n Dopazo
,
Laura I. Furlong
,
Bo Gao
,
Leyla García
,
Dietlind L. Gerloff
,
Marta Gut
,
Attila Gyenesei
,
James E. Haber
,
John M. Hancock
,
Marc Hanauer
,
Eivind Hovig
,
Lennart Johansson
,
Thomas Keane
,
Jan O. Korbel
,
Katharina B. Lauer
,
Steven Laurie
,
Brane Leskošek
,
David Lloyd
,
Tomàs Marquès‐Bonet
,
Hailiang Mei
,
Katalin Monostory
,
Janet Piñero
,
Krzysztof Poterlowicz
,
Ana Rath
,
Pubudu Samarakoon
,
Ferrán Sanz
,
Gary Saunders
,
Daoud Sie
,
Morris A. Swertz
,
Kirill Tsukanov
,
Alfonso Valencia
,
Marko Vidak
,
Cristina González
,
Bauke Ylstra
,
Christophe Béroud
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.12688/f1000research.24887.1
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.12688/f1000research.24887.1
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 human 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.
Related Topics
Concepts
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.12688/f1000research.24887.1
- https://f1000research.com/articles/9-1229/v1/pdf
- OA Status
- gold
- Cited By
- 6
- References
- 43
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3093456527
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3093456527Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.12688/f1000research.24887.1Digital Object Identifier
- Title
-
The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for researchWork title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2020Year of publication
- Publication date
-
2020-10-13Full publication date if available
- Authors
-
David Salgado, Irina M. Armean, Michael Baudis, Sergi Beltrán, Salvador Capella‐Gutierrez, Denise Carvalho‐Silva, Victoria Domínguez Del Angel, Joaquı́n Dopazo, Laura I. Furlong, Bo Gao, Leyla García, Dietlind L. Gerloff, Marta Gut, Attila Gyenesei, James E. Haber, John M. Hancock, Marc Hanauer, Eivind Hovig, Lennart Johansson, Thomas Keane, Jan O. Korbel, Katharina B. Lauer, Steven Laurie, Brane Leskošek, David Lloyd, Tomàs Marquès‐Bonet, Hailiang Mei, Katalin Monostory, Janet Piñero, Krzysztof Poterlowicz, Ana Rath, Pubudu Samarakoon, Ferrán Sanz, Gary Saunders, Daoud Sie, Morris A. Swertz, Kirill Tsukanov, Alfonso Valencia, Marko Vidak, Cristina González, Bauke Ylstra, Christophe BéroudList of authors in order
- Landing page
-
https://doi.org/10.12688/f1000research.24887.1Publisher landing page
- PDF URL
-
https://f1000research.com/articles/9-1229/v1/pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://f1000research.com/articles/9-1229/v1/pdfDirect OA link when available
- Concepts
-
Elixir (programming language), Context (archaeology), Genomics, Copy-number variation, Population, Biology, Computational biology, Bioinformatics, Medicine, Computer science, Genetics, Genome, Gene, Environmental health, Programming language, PaleontologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
6Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2023: 1, 2022: 2, 2021: 2Per-year citation counts (last 5 years)
- References (count)
-
43Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W3093456527 |
|---|---|
| doi | https://doi.org/10.12688/f1000research.24887.1 |
| ids.doi | https://doi.org/10.5167/uzh-205874 |
| ids.mag | 3093456527 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/34367618 |
| ids.openalex | https://openalex.org/W3093456527 |
| fwci | 0.48023723 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D019295 |
| mesh[0].is_major_topic | True |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | Computational Biology |
| mesh[1].qualifier_ui | Q000235 |
| mesh[1].descriptor_ui | D056915 |
| mesh[1].is_major_topic | True |
| mesh[1].qualifier_name | genetics |
| mesh[1].descriptor_name | DNA Copy Number Variations |
| mesh[2].qualifier_ui | |
| mesh[2].descriptor_ui | D059014 |
| mesh[2].is_major_topic | False |
| mesh[2].qualifier_name | |
| mesh[2].descriptor_name | High-Throughput Nucleotide Sequencing |
| mesh[3].qualifier_ui | |
| mesh[3].descriptor_ui | D006801 |
| mesh[3].is_major_topic | False |
| mesh[3].qualifier_name | |
| mesh[3].descriptor_name | Humans |
| mesh[4].qualifier_ui | |
| mesh[4].descriptor_ui | D019295 |
| mesh[4].is_major_topic | True |
| mesh[4].qualifier_name | |
| mesh[4].descriptor_name | Computational Biology |
| mesh[5].qualifier_ui | Q000235 |
| mesh[5].descriptor_ui | D056915 |
| mesh[5].is_major_topic | True |
| mesh[5].qualifier_name | genetics |
| mesh[5].descriptor_name | DNA Copy Number Variations |
| mesh[6].qualifier_ui | |
| mesh[6].descriptor_ui | D059014 |
| mesh[6].is_major_topic | False |
| mesh[6].qualifier_name | |
| mesh[6].descriptor_name | High-Throughput Nucleotide Sequencing |
| mesh[7].qualifier_ui | |
| mesh[7].descriptor_ui | D006801 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | |
| mesh[7].descriptor_name | Humans |
| type | preprint |
| title | The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research |
| biblio.issue | |
| biblio.volume | 9 |
| biblio.last_page | 1229 |
| biblio.first_page | 1229 |
| topics[0].id | https://openalex.org/T11287 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9993000030517578 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1306 |
| topics[0].subfield.display_name | Cancer Research |
| topics[0].display_name | Cancer Genomics and Diagnostics |
| topics[1].id | https://openalex.org/T11213 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9991000294685364 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1311 |
| topics[1].subfield.display_name | Genetics |
| topics[1].display_name | Genomic variations and chromosomal abnormalities |
| topics[2].id | https://openalex.org/T11642 |
| topics[2].field.id | https://openalex.org/fields/13 |
| topics[2].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[2].score | 0.9955000281333923 |
| topics[2].domain.id | https://openalex.org/domains/1 |
| topics[2].domain.display_name | Life Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/1311 |
| topics[2].subfield.display_name | Genetics |
| topics[2].display_name | Genomics and Rare Diseases |
| is_xpac | False |
| apc_list.value | 1350 |
| apc_list.currency | USD |
| apc_list.value_usd | 1350 |
| apc_paid.value | 1350 |
| apc_paid.currency | USD |
| apc_paid.value_usd | 1350 |
| concepts[0].id | https://openalex.org/C103472402 |
| concepts[0].level | 2 |
| concepts[0].score | 0.7400408387184143 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q5362035 |
| concepts[0].display_name | Elixir (programming language) |
| concepts[1].id | https://openalex.org/C2779343474 |
| concepts[1].level | 2 |
| concepts[1].score | 0.6496515274047852 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q3109175 |
| concepts[1].display_name | Context (archaeology) |
| concepts[2].id | https://openalex.org/C189206191 |
| concepts[2].level | 4 |
| concepts[2].score | 0.6123546957969666 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q222046 |
| concepts[2].display_name | Genomics |
| concepts[3].id | https://openalex.org/C120821319 |
| concepts[3].level | 4 |
| concepts[3].score | 0.5905020236968994 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q1501491 |
| concepts[3].display_name | Copy-number variation |
| concepts[4].id | https://openalex.org/C2908647359 |
| concepts[4].level | 2 |
| concepts[4].score | 0.4699081778526306 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q2625603 |
| concepts[4].display_name | Population |
| concepts[5].id | https://openalex.org/C86803240 |
| concepts[5].level | 0 |
| concepts[5].score | 0.4027597904205322 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[5].display_name | Biology |
| concepts[6].id | https://openalex.org/C70721500 |
| concepts[6].level | 1 |
| concepts[6].score | 0.3536509871482849 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q177005 |
| concepts[6].display_name | Computational biology |
| concepts[7].id | https://openalex.org/C60644358 |
| concepts[7].level | 1 |
| concepts[7].score | 0.3250272274017334 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q128570 |
| concepts[7].display_name | Bioinformatics |
| concepts[8].id | https://openalex.org/C71924100 |
| concepts[8].level | 0 |
| concepts[8].score | 0.3029077649116516 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[8].display_name | Medicine |
| concepts[9].id | https://openalex.org/C41008148 |
| concepts[9].level | 0 |
| concepts[9].score | 0.263330340385437 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q21198 |
| concepts[9].display_name | Computer science |
| concepts[10].id | https://openalex.org/C54355233 |
| concepts[10].level | 1 |
| concepts[10].score | 0.23343083262443542 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[10].display_name | Genetics |
| concepts[11].id | https://openalex.org/C141231307 |
| concepts[11].level | 3 |
| concepts[11].score | 0.1742074191570282 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q7020 |
| concepts[11].display_name | Genome |
| concepts[12].id | https://openalex.org/C104317684 |
| concepts[12].level | 2 |
| concepts[12].score | 0.10574287176132202 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[12].display_name | Gene |
| concepts[13].id | https://openalex.org/C99454951 |
| concepts[13].level | 1 |
| concepts[13].score | 0.08198046684265137 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q932068 |
| concepts[13].display_name | Environmental health |
| concepts[14].id | https://openalex.org/C199360897 |
| concepts[14].level | 1 |
| concepts[14].score | 0.0 |
| concepts[14].wikidata | https://www.wikidata.org/wiki/Q9143 |
| concepts[14].display_name | Programming language |
| concepts[15].id | https://openalex.org/C151730666 |
| concepts[15].level | 1 |
| concepts[15].score | 0.0 |
| concepts[15].wikidata | https://www.wikidata.org/wiki/Q7205 |
| concepts[15].display_name | Paleontology |
| keywords[0].id | https://openalex.org/keywords/elixir |
| keywords[0].score | 0.7400408387184143 |
| keywords[0].display_name | Elixir (programming language) |
| keywords[1].id | https://openalex.org/keywords/context |
| keywords[1].score | 0.6496515274047852 |
| keywords[1].display_name | Context (archaeology) |
| keywords[2].id | https://openalex.org/keywords/genomics |
| keywords[2].score | 0.6123546957969666 |
| keywords[2].display_name | Genomics |
| keywords[3].id | https://openalex.org/keywords/copy-number-variation |
| keywords[3].score | 0.5905020236968994 |
| keywords[3].display_name | Copy-number variation |
| keywords[4].id | https://openalex.org/keywords/population |
| keywords[4].score | 0.4699081778526306 |
| keywords[4].display_name | Population |
| keywords[5].id | https://openalex.org/keywords/biology |
| keywords[5].score | 0.4027597904205322 |
| keywords[5].display_name | Biology |
| keywords[6].id | https://openalex.org/keywords/computational-biology |
| keywords[6].score | 0.3536509871482849 |
| keywords[6].display_name | Computational biology |
| keywords[7].id | https://openalex.org/keywords/bioinformatics |
| keywords[7].score | 0.3250272274017334 |
| keywords[7].display_name | Bioinformatics |
| keywords[8].id | https://openalex.org/keywords/medicine |
| keywords[8].score | 0.3029077649116516 |
| keywords[8].display_name | Medicine |
| keywords[9].id | https://openalex.org/keywords/computer-science |
| keywords[9].score | 0.263330340385437 |
| keywords[9].display_name | Computer science |
| keywords[10].id | https://openalex.org/keywords/genetics |
| keywords[10].score | 0.23343083262443542 |
| keywords[10].display_name | Genetics |
| keywords[11].id | https://openalex.org/keywords/genome |
| keywords[11].score | 0.1742074191570282 |
| keywords[11].display_name | Genome |
| keywords[12].id | https://openalex.org/keywords/gene |
| keywords[12].score | 0.10574287176132202 |
| keywords[12].display_name | Gene |
| keywords[13].id | https://openalex.org/keywords/environmental-health |
| keywords[13].score | 0.08198046684265137 |
| keywords[13].display_name | Environmental health |
| language | en |
| locations[0].id | doi:10.12688/f1000research.24887.1 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S4210239046 |
| locations[0].source.issn | 2046-1402 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | True |
| locations[0].source.issn_l | 2046-1402 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | True |
| locations[0].source.display_name | F1000Research |
| locations[0].source.host_organization | https://openalex.org/P4310320357 |
| locations[0].source.host_organization_name | Faculty of 1000 |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310320357 |
| locations[0].source.host_organization_lineage_names | Faculty of 1000 |
| locations[0].license | cc-by |
| locations[0].pdf_url | https://f1000research.com/articles/9-1229/v1/pdf |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | F1000Research |
| locations[0].landing_page_url | https://doi.org/10.12688/f1000research.24887.1 |
| locations[1].id | pmid:34367618 |
| locations[1].is_oa | False |
| locations[1].source.id | https://openalex.org/S4306525036 |
| locations[1].source.issn | |
| locations[1].source.type | repository |
| locations[1].source.is_oa | False |
| locations[1].source.issn_l | |
| locations[1].source.is_core | False |
| locations[1].source.is_in_doaj | False |
| locations[1].source.display_name | PubMed |
| locations[1].source.host_organization | https://openalex.org/I1299303238 |
| locations[1].source.host_organization_name | National Institutes of Health |
| locations[1].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[1].license | |
| locations[1].pdf_url | |
| locations[1].version | publishedVersion |
| locations[1].raw_type | |
| locations[1].license_id | |
| locations[1].is_accepted | True |
| locations[1].is_published | True |
| locations[1].raw_source_name | F1000Research |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/34367618 |
| locations[2].id | pmh:oai:pure.rug.nl:publications/093d57f1-9052-4640-9104-bb2bd42c70e1 |
| locations[2].is_oa | True |
| locations[2].source.id | https://openalex.org/S4306400420 |
| locations[2].source.issn | |
| locations[2].source.type | repository |
| locations[2].source.is_oa | False |
| locations[2].source.issn_l | |
| locations[2].source.is_core | False |
| locations[2].source.is_in_doaj | False |
| locations[2].source.display_name | University of Groningen research database (University of Groningen / Centre for Information Technology) |
| locations[2].source.host_organization | https://openalex.org/I169381384 |
| locations[2].source.host_organization_name | University of Groningen |
| locations[2].source.host_organization_lineage | https://openalex.org/I169381384 |
| locations[2].license | cc-by |
| locations[2].pdf_url | https://pure.rug.nl/ws/files/179816527/The_ELIXIR_Human_Copy_Number_Variations_Community_building_bioinformatics_infrastructure_for_research.pdf |
| locations[2].version | submittedVersion |
| locations[2].raw_type | article |
| locations[2].license_id | https://openalex.org/licenses/cc-by |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | Salgado, D, 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, Johansson, L F, Keane, T, Korbel, J, Lauer, K B, 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, M A, Tsukanov, K, Valencia, A, Vidak, M, Yenyxe González, C, Ylstra, B & Béroud, C 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 |
| locations[2].landing_page_url | https://research.rug.nl/en/publications/093d57f1-9052-4640-9104-bb2bd42c70e1 |
| locations[3].id | pmh:oai:www.zora.uzh.ch:205874 |
| locations[3].is_oa | True |
| locations[3].source.id | https://openalex.org/S4306401281 |
| locations[3].source.issn | |
| locations[3].source.type | repository |
| locations[3].source.is_oa | False |
| locations[3].source.issn_l | |
| locations[3].source.is_core | False |
| locations[3].source.is_in_doaj | False |
| locations[3].source.display_name | Zurich Open Repository and Archive (University of Zurich) |
| locations[3].source.host_organization | https://openalex.org/I202697423 |
| locations[3].source.host_organization_name | University of Zurich |
| locations[3].source.host_organization_lineage | https://openalex.org/I202697423 |
| locations[3].license | cc-by |
| locations[3].pdf_url | https://www.zora.uzh.ch/id/eprint/205874/2/The_ELIXIR_Human_Copy.pdf |
| locations[3].version | submittedVersion |
| locations[3].raw_type | info:eu-repo/semantics/publishedVersion |
| locations[3].license_id | https://openalex.org/licenses/cc-by |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | Salgado, David; Armean, Irina M; Baudis, Michael; et al (2020). The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research. F1000Research, 9:1229. |
| locations[3].landing_page_url | |
| locations[4].id | pmh:oai:HAL:hal-05130625v1 |
| locations[4].is_oa | True |
| locations[4].source.id | https://openalex.org/S4306402512 |
| locations[4].source.issn | |
| locations[4].source.type | repository |
| locations[4].source.is_oa | False |
| locations[4].source.issn_l | |
| locations[4].source.is_core | False |
| locations[4].source.is_in_doaj | False |
| locations[4].source.display_name | HAL (Le Centre pour la Communication Scientifique Directe) |
| locations[4].source.host_organization | https://openalex.org/I1294671590 |
| locations[4].source.host_organization_name | Centre National de la Recherche Scientifique |
| locations[4].source.host_organization_lineage | https://openalex.org/I1294671590 |
| locations[4].license | other-oa |
| locations[4].pdf_url | |
| locations[4].version | submittedVersion |
| locations[4].raw_type | Journal articles |
| locations[4].license_id | https://openalex.org/licenses/other-oa |
| locations[4].is_accepted | False |
| locations[4].is_published | False |
| locations[4].raw_source_name | F1000Research, 2020, 9, pp.1229. ⟨10.12688/f1000research.24887.1⟩ |
| locations[4].landing_page_url | https://cnrs.hal.science/hal-05130625 |
| locations[5].id | pmh:oai:doaj.org/article:ce2c79f73a854618a434aa5e5c6bd672 |
| locations[5].is_oa | True |
| locations[5].source.id | https://openalex.org/S4306401280 |
| locations[5].source.issn | |
| locations[5].source.type | repository |
| locations[5].source.is_oa | False |
| locations[5].source.issn_l | |
| locations[5].source.is_core | False |
| locations[5].source.is_in_doaj | False |
| locations[5].source.display_name | DOAJ (DOAJ: Directory of Open Access Journals) |
| locations[5].source.host_organization | |
| locations[5].source.host_organization_name | |
| locations[5].license | cc-by-sa |
| locations[5].pdf_url | |
| locations[5].version | submittedVersion |
| locations[5].raw_type | article |
| locations[5].license_id | https://openalex.org/licenses/cc-by-sa |
| locations[5].is_accepted | False |
| locations[5].is_published | False |
| locations[5].raw_source_name | F1000Research, Vol 9 (2020) |
| locations[5].landing_page_url | https://doaj.org/article/ce2c79f73a854618a434aa5e5c6bd672 |
| locations[6].id | pmh:oai:pubmedcentral.nih.gov:8311797 |
| locations[6].is_oa | True |
| locations[6].source.id | https://openalex.org/S2764455111 |
| locations[6].source.issn | |
| locations[6].source.type | repository |
| locations[6].source.is_oa | False |
| locations[6].source.issn_l | |
| locations[6].source.is_core | False |
| locations[6].source.is_in_doaj | False |
| locations[6].source.display_name | PubMed Central |
| locations[6].source.host_organization | https://openalex.org/I1299303238 |
| locations[6].source.host_organization_name | National Institutes of Health |
| locations[6].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[6].license | other-oa |
| locations[6].pdf_url | |
| locations[6].version | submittedVersion |
| locations[6].raw_type | Text |
| locations[6].license_id | https://openalex.org/licenses/other-oa |
| locations[6].is_accepted | False |
| locations[6].is_published | False |
| locations[6].raw_source_name | F1000Res |
| locations[6].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/8311797 |
| locations[7].id | pmh:oai:repositori.upf.edu:10230/52947 |
| locations[7].is_oa | True |
| locations[7].source.id | https://openalex.org/S4306402615 |
| locations[7].source.issn | |
| locations[7].source.type | repository |
| locations[7].source.is_oa | False |
| locations[7].source.issn_l | |
| locations[7].source.is_core | False |
| locations[7].source.is_in_doaj | False |
| locations[7].source.display_name | Repositori digital de la UPF (Universitat Pompeu Fabra) |
| locations[7].source.host_organization | https://openalex.org/I170486558 |
| locations[7].source.host_organization_name | Pompeu Fabra University |
| locations[7].source.host_organization_lineage | https://openalex.org/I170486558 |
| locations[7].license | other-oa |
| locations[7].pdf_url | |
| locations[7].version | submittedVersion |
| locations[7].raw_type | info:eu-repo/semantics/article |
| locations[7].license_id | https://openalex.org/licenses/other-oa |
| locations[7].is_accepted | False |
| locations[7].is_published | False |
| locations[7].raw_source_name | |
| locations[7].landing_page_url | http://hdl.handle.net/10230/52947 |
| locations[8].id | pmh:vumc:oai:pure.atira.dk:publications/e0d24fb1-eb00-449f-959c-eb0cd4e74a80 |
| locations[8].is_oa | True |
| locations[8].source.id | https://openalex.org/S4306401843 |
| locations[8].source.issn | |
| locations[8].source.type | repository |
| locations[8].source.is_oa | False |
| locations[8].source.issn_l | |
| locations[8].source.is_core | False |
| locations[8].source.is_in_doaj | False |
| locations[8].source.display_name | Data Archiving and Networked Services (DANS) |
| locations[8].source.host_organization | https://openalex.org/I1322597698 |
| locations[8].source.host_organization_name | Royal Netherlands Academy of Arts and Sciences |
| locations[8].source.host_organization_lineage | https://openalex.org/I1322597698 |
| locations[8].license | other-oa |
| locations[8].pdf_url | |
| locations[8].version | submittedVersion |
| locations[8].raw_type | info:eu-repo/semantics/article |
| locations[8].license_id | https://openalex.org/licenses/other-oa |
| locations[8].is_accepted | False |
| locations[8].is_published | False |
| locations[8].raw_source_name | F1000Research, 9:1229. F1000 Research Ltd. |
| locations[8].landing_page_url | https://research.vumc.nl/en/publications/e0d24fb1-eb00-449f-959c-eb0cd4e74a80 |
| locations[9].id | doi:10.5167/uzh-205874 |
| locations[9].is_oa | True |
| locations[9].source.id | https://openalex.org/S7407051291 |
| locations[9].source.type | repository |
| locations[9].source.is_oa | False |
| locations[9].source.issn_l | |
| locations[9].source.is_core | False |
| locations[9].source.is_in_doaj | False |
| locations[9].source.display_name | Universität Zürich, ZORA |
| locations[9].source.host_organization | |
| locations[9].source.host_organization_name | |
| locations[9].license | |
| locations[9].pdf_url | |
| locations[9].version | |
| locations[9].raw_type | article-journal |
| locations[9].license_id | |
| locations[9].is_accepted | False |
| locations[9].is_published | |
| locations[9].raw_source_name | |
| locations[9].landing_page_url | https://doi.org/10.5167/uzh-205874 |
| indexed_in | crossref, datacite, doaj, pubmed |
| authorships[0].author.id | https://openalex.org/A5063600106 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-5905-3591 |
| authorships[0].author.display_name | David Salgado |
| authorships[0].countries | FR |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I21491767 |
| authorships[0].affiliations[0].raw_affiliation_string | Aix Marseille University, Marseille |
| authorships[0].institutions[0].id | https://openalex.org/I21491767 |
| authorships[0].institutions[0].ror | https://ror.org/035xkbk20 |
| authorships[0].institutions[0].type | education |
| authorships[0].institutions[0].lineage | https://openalex.org/I21491767 |
| authorships[0].institutions[0].country_code | FR |
| authorships[0].institutions[0].display_name | Aix-Marseille Université |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | David Salgado |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Aix Marseille University, Marseille |
| authorships[1].author.id | https://openalex.org/A5013320194 |
| authorships[1].author.orcid | https://orcid.org/0000-0002-1043-4756 |
| authorships[1].author.display_name | Irina M. Armean |
| authorships[1].countries | GB |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I1303153112 |
| authorships[1].affiliations[0].raw_affiliation_string | European Molecular Biology Laboratory, EMBL European Bioinformatics Institute, Wellcome Genome Campus, Hinxton |
| authorships[1].institutions[0].id | https://openalex.org/I1303153112 |
| authorships[1].institutions[0].ror | https://ror.org/02catss52 |
| authorships[1].institutions[0].type | facility |
| authorships[1].institutions[0].lineage | https://openalex.org/I1303153112, https://openalex.org/I4210138560 |
| authorships[1].institutions[0].country_code | GB |
| authorships[1].institutions[0].display_name | European Bioinformatics Institute |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Irina M. Armean |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | European Molecular Biology Laboratory, EMBL European Bioinformatics Institute, Wellcome Genome Campus, Hinxton |
| authorships[2].author.id | https://openalex.org/A5023290722 |
| authorships[2].author.orcid | https://orcid.org/0000-0002-9903-4248 |
| authorships[2].author.display_name | Michael Baudis |
| authorships[2].countries | CH |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I12708293 |
| authorships[2].affiliations[0].raw_affiliation_string | Department of Molecular Life Sciences and Swiss Institute of Bioinformatics, Swiss Institute of Bioinformatics, Zurich |
| authorships[2].institutions[0].id | https://openalex.org/I12708293 |
| authorships[2].institutions[0].ror | https://ror.org/002n09z45 |
| authorships[2].institutions[0].type | nonprofit |
| authorships[2].institutions[0].lineage | https://openalex.org/I12708293 |
| authorships[2].institutions[0].country_code | CH |
| authorships[2].institutions[0].display_name | SIB Swiss Institute of Bioinformatics |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Michael Baudis |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Department of Molecular Life Sciences and Swiss Institute of Bioinformatics, Swiss Institute of Bioinformatics, Zurich |
| authorships[3].author.id | https://openalex.org/A5065945638 |
| authorships[3].author.orcid | https://orcid.org/0000-0002-2810-3445 |
| authorships[3].author.display_name | Sergi Beltrán |
| authorships[3].countries | ES |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I4210137962 |
| authorships[3].affiliations[0].raw_affiliation_string | CNAG-CRG, Centre for Genomic Regulation (CRG), Center for Genomic Regulation, Barcelona, Baldiri Reixac 4, Barcelona 08028 |
| authorships[3].affiliations[1].institution_ids | https://openalex.org/I170486558 |
| authorships[3].affiliations[1].raw_affiliation_string | Universitat Pompeu Fabra (UPF), Barcelona |
| authorships[3].institutions[0].id | https://openalex.org/I4210137962 |
| authorships[3].institutions[0].ror | https://ror.org/03wyzt892 |
| authorships[3].institutions[0].type | nonprofit |
| authorships[3].institutions[0].lineage | https://openalex.org/I4210132884, https://openalex.org/I4210137962, https://openalex.org/I4387153040 |
| authorships[3].institutions[0].country_code | ES |
| authorships[3].institutions[0].display_name | Centre for Genomic Regulation |
| authorships[3].institutions[1].id | https://openalex.org/I170486558 |
| authorships[3].institutions[1].ror | https://ror.org/04n0g0b29 |
| authorships[3].institutions[1].type | education |
| authorships[3].institutions[1].lineage | https://openalex.org/I170486558 |
| authorships[3].institutions[1].country_code | ES |
| authorships[3].institutions[1].display_name | Universitat Pompeu Fabra |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Sergi Beltran |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | CNAG-CRG, Centre for Genomic Regulation (CRG), Center for Genomic Regulation, Barcelona, Baldiri Reixac 4, Barcelona 08028, Universitat Pompeu Fabra (UPF), Barcelona |
| authorships[4].author.id | https://openalex.org/A5059757648 |
| authorships[4].author.orcid | https://orcid.org/0000-0002-0309-604X |
| authorships[4].author.display_name | Salvador Capella‐Gutierrez |
| authorships[4].countries | ES |
| authorships[4].affiliations[0].raw_affiliation_string | Spanish National Bioinformatics Institute (INB)/ELIXIR-ES, Barcelona |
| authorships[4].affiliations[1].institution_ids | https://openalex.org/I2799803557, https://openalex.org/I9617848 |
| authorships[4].affiliations[1].raw_affiliation_string | Barcelona Supercomputing Center, Barcelona |
| authorships[4].institutions[0].id | https://openalex.org/I2799803557 |
| authorships[4].institutions[0].ror | https://ror.org/05sd8tv96 |
| authorships[4].institutions[0].type | facility |
| authorships[4].institutions[0].lineage | https://openalex.org/I2799803557, https://openalex.org/I9617848 |
| authorships[4].institutions[0].country_code | ES |
| authorships[4].institutions[0].display_name | Barcelona Supercomputing Center |
| authorships[4].institutions[1].id | https://openalex.org/I9617848 |
| authorships[4].institutions[1].ror | https://ror.org/03mb6wj31 |
| authorships[4].institutions[1].type | education |
| authorships[4].institutions[1].lineage | https://openalex.org/I9617848 |
| authorships[4].institutions[1].country_code | ES |
| authorships[4].institutions[1].display_name | Universitat Politècnica de Catalunya |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Salvador Capella-Gutierrez |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Barcelona Supercomputing Center, Barcelona, Spanish National Bioinformatics Institute (INB)/ELIXIR-ES, Barcelona |
| authorships[5].author.id | https://openalex.org/A5051362821 |
| authorships[5].author.orcid | https://orcid.org/0000-0001-5662-1840 |
| authorships[5].author.display_name | Denise Carvalho‐Silva |
| authorships[5].countries | GB |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I4210086966 |
| authorships[5].affiliations[0].raw_affiliation_string | Open Targets, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD |
| authorships[5].affiliations[1].institution_ids | https://openalex.org/I1303153112 |
| authorships[5].affiliations[1].raw_affiliation_string | European Molecular Biology Laboratory, EMBL European Bioinformatics Institute, Wellcome Genome Campus, Hinxton |
| authorships[5].institutions[0].id | https://openalex.org/I1303153112 |
| authorships[5].institutions[0].ror | https://ror.org/02catss52 |
| authorships[5].institutions[0].type | facility |
| authorships[5].institutions[0].lineage | https://openalex.org/I1303153112, https://openalex.org/I4210138560 |
| authorships[5].institutions[0].country_code | GB |
| authorships[5].institutions[0].display_name | European Bioinformatics Institute |
| authorships[5].institutions[1].id | https://openalex.org/I4210086966 |
| authorships[5].institutions[1].ror | https://ror.org/000bp7q73 |
| authorships[5].institutions[1].type | facility |
| authorships[5].institutions[1].lineage | https://openalex.org/I4210086966 |
| authorships[5].institutions[1].country_code | GB |
| authorships[5].institutions[1].display_name | Open Targets |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Denise Carvalho-Silva |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | European Molecular Biology Laboratory, EMBL European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Open Targets, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD |
| authorships[6].author.id | https://openalex.org/A5082242349 |
| authorships[6].author.orcid | https://orcid.org/0000-0002-5514-6651 |
| authorships[6].author.display_name | Victoria Domínguez Del Angel |
| authorships[6].countries | FR |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I4210138994 |
| authorships[6].affiliations[0].raw_affiliation_string | Institut Français de Bioinformatique, UMS3601-CNRS, CNRS, Paris |
| authorships[6].institutions[0].id | https://openalex.org/I1294671590 |
| authorships[6].institutions[0].ror | https://ror.org/02feahw73 |
| authorships[6].institutions[0].type | government |
| authorships[6].institutions[0].lineage | https://openalex.org/I1294671590 |
| authorships[6].institutions[0].country_code | FR |
| authorships[6].institutions[0].display_name | Centre National de la Recherche Scientifique |
| authorships[6].institutions[1].id | https://openalex.org/I4210138994 |
| authorships[6].institutions[1].ror | https://ror.org/045f7pv37 |
| authorships[6].institutions[1].type | facility |
| authorships[6].institutions[1].lineage | https://openalex.org/I4210138994 |
| authorships[6].institutions[1].country_code | FR |
| authorships[6].institutions[1].display_name | Institut Français de Bioinformatique |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Victoria Dominguez Del Angel |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Institut Français de Bioinformatique, UMS3601-CNRS, CNRS, Paris |
| authorships[7].author.id | https://openalex.org/A5074140420 |
| authorships[7].author.orcid | https://orcid.org/0000-0003-3318-120X |
| authorships[7].author.display_name | Joaquı́n Dopazo |
| authorships[7].countries | ES |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I4210086910 |
| authorships[7].affiliations[0].raw_affiliation_string | Clinical Bioinformatics Area, Fundación Progreso y Salud, CDCA, Hospital Virgen del Rocio, Sevilla |
| authorships[7].institutions[0].id | https://openalex.org/I4210086910 |
| authorships[7].institutions[0].ror | https://ror.org/0048t7e91 |
| authorships[7].institutions[0].type | other |
| authorships[7].institutions[0].lineage | https://openalex.org/I4210086910, https://openalex.org/I4210152975, https://openalex.org/I918821925 |
| authorships[7].institutions[0].country_code | ES |
| authorships[7].institutions[0].display_name | Fundación Progreso y Salud |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Joaquin Dopazo |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Clinical Bioinformatics Area, Fundación Progreso y Salud, CDCA, Hospital Virgen del Rocio, Sevilla |
| authorships[8].author.id | https://openalex.org/A5028427590 |
| authorships[8].author.orcid | https://orcid.org/0000-0002-9383-528X |
| authorships[8].author.display_name | Laura I. Furlong |
| authorships[8].countries | ES |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I170486558, https://openalex.org/I4210156109 |
| authorships[8].affiliations[0].raw_affiliation_string | Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Pompeu Fabra University, Barcelona |
| authorships[8].institutions[0].id | https://openalex.org/I4210156109 |
| authorships[8].institutions[0].ror | https://ror.org/042nkmz09 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I4210156109, https://openalex.org/I4387153040 |
| authorships[8].institutions[0].country_code | ES |
| authorships[8].institutions[0].display_name | Hospital del Mar Research Institute |
| authorships[8].institutions[1].id | https://openalex.org/I170486558 |
| authorships[8].institutions[1].ror | https://ror.org/04n0g0b29 |
| authorships[8].institutions[1].type | education |
| authorships[8].institutions[1].lineage | https://openalex.org/I170486558 |
| authorships[8].institutions[1].country_code | ES |
| authorships[8].institutions[1].display_name | Universitat Pompeu Fabra |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Laura I. Furlong |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Pompeu Fabra University, Barcelona |
| authorships[9].author.id | https://openalex.org/A5067601372 |
| authorships[9].author.orcid | https://orcid.org/0000-0003-2818-4000 |
| authorships[9].author.display_name | Bo Gao |
| authorships[9].countries | CH |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I12708293 |
| authorships[9].affiliations[0].raw_affiliation_string | Department of Molecular Life Sciences and Swiss Institute of Bioinformatics, Swiss Institute of Bioinformatics, Zurich |
| authorships[9].institutions[0].id | https://openalex.org/I12708293 |
| authorships[9].institutions[0].ror | https://ror.org/002n09z45 |
| authorships[9].institutions[0].type | nonprofit |
| authorships[9].institutions[0].lineage | https://openalex.org/I12708293 |
| authorships[9].institutions[0].country_code | CH |
| authorships[9].institutions[0].display_name | SIB Swiss Institute of Bioinformatics |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Bo Gao |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Department of Molecular Life Sciences and Swiss Institute of Bioinformatics, Swiss Institute of Bioinformatics, Zurich |
| authorships[10].author.id | https://openalex.org/A5108009730 |
| authorships[10].author.orcid | https://orcid.org/0000-0002-1093-8209 |
| authorships[10].author.display_name | Leyla García |
| authorships[10].countries | DE, GB |
| authorships[10].affiliations[0].raw_affiliation_string | ELIXIR Hub, Hinxton |
| authorships[10].affiliations[1].institution_ids | https://openalex.org/I4210112663 |
| authorships[10].affiliations[1].raw_affiliation_string | ZB MED Information Centre for Life Sciences, Cologne |
| authorships[10].affiliations[2].institution_ids | https://openalex.org/I1303153112 |
| authorships[10].affiliations[2].raw_affiliation_string | European Molecular Biology Laboratory, EMBL European Bioinformatics Institute, Wellcome Genome Campus, Hinxton |
| authorships[10].institutions[0].id | https://openalex.org/I4210112663 |
| authorships[10].institutions[0].ror | https://ror.org/0259fwx54 |
| authorships[10].institutions[0].type | archive |
| authorships[10].institutions[0].lineage | https://openalex.org/I4210112663 |
| authorships[10].institutions[0].country_code | DE |
| authorships[10].institutions[0].display_name | ZB MED - Information Centre for Life Sciences |
| authorships[10].institutions[1].id | https://openalex.org/I1303153112 |
| authorships[10].institutions[1].ror | https://ror.org/02catss52 |
| authorships[10].institutions[1].type | facility |
| authorships[10].institutions[1].lineage | https://openalex.org/I1303153112, https://openalex.org/I4210138560 |
| authorships[10].institutions[1].country_code | GB |
| authorships[10].institutions[1].display_name | European Bioinformatics Institute |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Leyla Garcia |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | ELIXIR Hub, Hinxton, European Molecular Biology Laboratory, EMBL European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, ZB MED Information Centre for Life Sciences, Cologne |
| authorships[11].author.id | https://openalex.org/A5090286378 |
| authorships[11].author.orcid | |
| authorships[11].author.display_name | Dietlind L. Gerloff |
| authorships[11].countries | LU |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I186903577 |
| authorships[11].affiliations[0].raw_affiliation_string | Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux |
| authorships[11].institutions[0].id | https://openalex.org/I186903577 |
| authorships[11].institutions[0].ror | https://ror.org/036x5ad56 |
| authorships[11].institutions[0].type | education |
| authorships[11].institutions[0].lineage | https://openalex.org/I186903577 |
| authorships[11].institutions[0].country_code | LU |
| authorships[11].institutions[0].display_name | University of Luxembourg |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Dietlind Gerloff |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux |
| authorships[12].author.id | https://openalex.org/A5066760172 |
| authorships[12].author.orcid | |
| authorships[12].author.display_name | Marta Gut |
| authorships[12].countries | ES |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I170486558 |
| authorships[12].affiliations[0].raw_affiliation_string | Universitat Pompeu Fabra (UPF), Barcelona |
| authorships[12].affiliations[1].institution_ids | https://openalex.org/I4210137962 |
| authorships[12].affiliations[1].raw_affiliation_string | CNAG-CRG, Centre for Genomic Regulation (CRG), Center for Genomic Regulation, Barcelona, Baldiri Reixac 4, Barcelona 08028 |
| authorships[12].institutions[0].id | https://openalex.org/I4210137962 |
| authorships[12].institutions[0].ror | https://ror.org/03wyzt892 |
| authorships[12].institutions[0].type | nonprofit |
| authorships[12].institutions[0].lineage | https://openalex.org/I4210132884, https://openalex.org/I4210137962, https://openalex.org/I4387153040 |
| authorships[12].institutions[0].country_code | ES |
| authorships[12].institutions[0].display_name | Centre for Genomic Regulation |
| authorships[12].institutions[1].id | https://openalex.org/I170486558 |
| authorships[12].institutions[1].ror | https://ror.org/04n0g0b29 |
| authorships[12].institutions[1].type | education |
| authorships[12].institutions[1].lineage | https://openalex.org/I170486558 |
| authorships[12].institutions[1].country_code | ES |
| authorships[12].institutions[1].display_name | Universitat Pompeu Fabra |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Ivo Gut |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | CNAG-CRG, Centre for Genomic Regulation (CRG), Center for Genomic Regulation, Barcelona, Baldiri Reixac 4, Barcelona 08028, Universitat Pompeu Fabra (UPF), Barcelona |
| authorships[13].author.id | https://openalex.org/A5009331189 |
| authorships[13].author.orcid | https://orcid.org/0000-0003-2925-9342 |
| authorships[13].author.display_name | Attila Gyenesei |
| authorships[13].countries | HU |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I79741316 |
| authorships[13].affiliations[0].raw_affiliation_string | Szentágothai Research Center, University of Pecs, Pécs |
| authorships[13].institutions[0].id | https://openalex.org/I79741316 |
| authorships[13].institutions[0].ror | https://ror.org/037b5pv06 |
| authorships[13].institutions[0].type | education |
| authorships[13].institutions[0].lineage | https://openalex.org/I79741316 |
| authorships[13].institutions[0].country_code | HU |
| authorships[13].institutions[0].display_name | University of Pecs |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Attila Gyenesei |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | Szentágothai Research Center, University of Pecs, Pécs |
| authorships[14].author.id | https://openalex.org/A5048113506 |
| authorships[14].author.orcid | https://orcid.org/0000-0002-1878-0610 |
| authorships[14].author.display_name | James E. Haber |
| authorships[14].affiliations[0].raw_affiliation_string | Genome Biology, European Molecular Biological Laboratory, Heidelberg |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Nina Habermann |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | Genome Biology, European Molecular Biological Laboratory, Heidelberg |
| authorships[15].author.id | https://openalex.org/A5030731998 |
| authorships[15].author.orcid | https://orcid.org/0000-0003-2991-2217 |
| authorships[15].author.display_name | John M. Hancock |
| authorships[15].affiliations[0].raw_affiliation_string | ELIXIR Hub, Hinxton |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | John M. Hancock |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | ELIXIR Hub, Hinxton |
| authorships[16].author.id | https://openalex.org/A5107898016 |
| authorships[16].author.orcid | |
| authorships[16].author.display_name | Marc Hanauer |
| authorships[16].countries | FR |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I154526488, https://openalex.org/I4210133579 |
| authorships[16].affiliations[0].raw_affiliation_string | Orphanet, INSERM, Paris |
| authorships[16].institutions[0].id | https://openalex.org/I154526488 |
| authorships[16].institutions[0].ror | https://ror.org/02vjkv261 |
| authorships[16].institutions[0].type | government |
| authorships[16].institutions[0].lineage | https://openalex.org/I154526488 |
| authorships[16].institutions[0].country_code | FR |
| authorships[16].institutions[0].display_name | Inserm |
| authorships[16].institutions[1].id | https://openalex.org/I4210133579 |
| authorships[16].institutions[1].ror | https://ror.org/03d3kf570 |
| authorships[16].institutions[1].type | other |
| authorships[16].institutions[1].lineage | https://openalex.org/I4210133579 |
| authorships[16].institutions[1].country_code | FR |
| authorships[16].institutions[1].display_name | Orphanet |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | Marc Hanauer |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | Orphanet, INSERM, Paris |
| authorships[17].author.id | https://openalex.org/A5083493986 |
| authorships[17].author.orcid | https://orcid.org/0000-0002-9103-1077 |
| authorships[17].author.display_name | Eivind Hovig |
| authorships[17].countries | NO |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I1281400175 |
| authorships[17].affiliations[0].raw_affiliation_string | Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo |
| authorships[17].institutions[0].id | https://openalex.org/I1281400175 |
| authorships[17].institutions[0].ror | https://ror.org/00j9c2840 |
| authorships[17].institutions[0].type | healthcare |
| authorships[17].institutions[0].lineage | https://openalex.org/I1281400175 |
| authorships[17].institutions[0].country_code | NO |
| authorships[17].institutions[0].display_name | Oslo University Hospital |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Eivind Hovig |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo |
| authorships[18].author.id | https://openalex.org/A5108129900 |
| authorships[18].author.orcid | |
| authorships[18].author.display_name | Lennart Johansson |
| authorships[18].countries | NL |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I1334415907, https://openalex.org/I169381384 |
| authorships[18].affiliations[0].raw_affiliation_string | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen |
| authorships[18].institutions[0].id | https://openalex.org/I1334415907 |
| authorships[18].institutions[0].ror | https://ror.org/03cv38k47 |
| authorships[18].institutions[0].type | healthcare |
| authorships[18].institutions[0].lineage | https://openalex.org/I1334415907 |
| authorships[18].institutions[0].country_code | NL |
| authorships[18].institutions[0].display_name | University Medical Center Groningen |
| authorships[18].institutions[1].id | https://openalex.org/I169381384 |
| authorships[18].institutions[1].ror | https://ror.org/012p63287 |
| authorships[18].institutions[1].type | education |
| authorships[18].institutions[1].lineage | https://openalex.org/I169381384 |
| authorships[18].institutions[1].country_code | NL |
| authorships[18].institutions[1].display_name | University of Groningen |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | Lennart F. Johansson |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen |
| authorships[19].author.id | https://openalex.org/A5057637553 |
| authorships[19].author.orcid | https://orcid.org/0000-0001-7532-6898 |
| authorships[19].author.display_name | Thomas Keane |
| authorships[19].countries | GB |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I1303153112 |
| authorships[19].affiliations[0].raw_affiliation_string | European Molecular Biology Laboratory, EMBL European Bioinformatics Institute, Wellcome Genome Campus, Hinxton |
| authorships[19].institutions[0].id | https://openalex.org/I1303153112 |
| authorships[19].institutions[0].ror | https://ror.org/02catss52 |
| authorships[19].institutions[0].type | facility |
| authorships[19].institutions[0].lineage | https://openalex.org/I1303153112, https://openalex.org/I4210138560 |
| authorships[19].institutions[0].country_code | GB |
| authorships[19].institutions[0].display_name | European Bioinformatics Institute |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Thomas Keane |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | European Molecular Biology Laboratory, EMBL European Bioinformatics Institute, Wellcome Genome Campus, Hinxton |
| authorships[20].author.id | https://openalex.org/A5071136927 |
| authorships[20].author.orcid | https://orcid.org/0000-0002-2798-3794 |
| authorships[20].author.display_name | Jan O. Korbel |
| authorships[20].affiliations[0].raw_affiliation_string | Genome Biology, European Molecular Biological Laboratory, Heidelberg |
| authorships[20].author_position | middle |
| authorships[20].raw_author_name | Jan Korbel |
| authorships[20].is_corresponding | False |
| authorships[20].raw_affiliation_strings | Genome Biology, European Molecular Biological Laboratory, Heidelberg |
| authorships[21].author.id | https://openalex.org/A5089269849 |
| authorships[21].author.orcid | https://orcid.org/0000-0002-4347-7525 |
| authorships[21].author.display_name | Katharina B. Lauer |
| authorships[21].affiliations[0].raw_affiliation_string | ELIXIR Hub, Hinxton |
| authorships[21].author_position | middle |
| authorships[21].raw_author_name | Katharina B. Lauer |
| authorships[21].is_corresponding | False |
| authorships[21].raw_affiliation_strings | ELIXIR Hub, Hinxton |
| authorships[22].author.id | https://openalex.org/A5085903199 |
| authorships[22].author.orcid | https://orcid.org/0000-0003-3913-5829 |
| authorships[22].author.display_name | Steven Laurie |
| authorships[22].countries | ES |
| authorships[22].affiliations[0].institution_ids | https://openalex.org/I4210137962 |
| authorships[22].affiliations[0].raw_affiliation_string | CNAG-CRG, Centre for Genomic Regulation (CRG), Center for Genomic Regulation, Barcelona, Baldiri Reixac 4, Barcelona 08028 |
| authorships[22].institutions[0].id | https://openalex.org/I4210137962 |
| authorships[22].institutions[0].ror | https://ror.org/03wyzt892 |
| authorships[22].institutions[0].type | nonprofit |
| authorships[22].institutions[0].lineage | https://openalex.org/I4210132884, https://openalex.org/I4210137962, https://openalex.org/I4387153040 |
| authorships[22].institutions[0].country_code | ES |
| authorships[22].institutions[0].display_name | Centre for Genomic Regulation |
| authorships[22].author_position | middle |
| authorships[22].raw_author_name | Steve Laurie |
| authorships[22].is_corresponding | False |
| authorships[22].raw_affiliation_strings | CNAG-CRG, Centre for Genomic Regulation (CRG), Center for Genomic Regulation, Barcelona, Baldiri Reixac 4, Barcelona 08028 |
| authorships[23].author.id | https://openalex.org/A5042214881 |
| authorships[23].author.orcid | https://orcid.org/0000-0001-5202-2349 |
| authorships[23].author.display_name | Brane Leskošek |
| authorships[23].countries | SI |
| authorships[23].affiliations[0].institution_ids | https://openalex.org/I153976015 |
| authorships[23].affiliations[0].raw_affiliation_string | Faculty of Medicine - ELIXIR Slovenia, University of Ljubljana, Ljubljana |
| authorships[23].institutions[0].id | https://openalex.org/I153976015 |
| authorships[23].institutions[0].ror | https://ror.org/05njb9z20 |
| authorships[23].institutions[0].type | education |
| authorships[23].institutions[0].lineage | https://openalex.org/I153976015 |
| authorships[23].institutions[0].country_code | SI |
| authorships[23].institutions[0].display_name | University of Ljubljana |
| authorships[23].author_position | middle |
| authorships[23].raw_author_name | Brane Leskošek |
| authorships[23].is_corresponding | False |
| authorships[23].raw_affiliation_strings | Faculty of Medicine - ELIXIR Slovenia, University of Ljubljana, Ljubljana |
| authorships[24].author.id | https://openalex.org/A5069964511 |
| authorships[24].author.orcid | https://orcid.org/0000-0003-1222-5912 |
| authorships[24].author.display_name | David Lloyd |
| authorships[24].affiliations[0].raw_affiliation_string | ELIXIR Hub, Hinxton |
| authorships[24].author_position | middle |
| authorships[24].raw_author_name | David Lloyd |
| authorships[24].is_corresponding | False |
| authorships[24].raw_affiliation_strings | ELIXIR Hub, Hinxton |
| authorships[25].author.id | https://openalex.org/A5076185839 |
| authorships[25].author.orcid | https://orcid.org/0000-0002-5597-3075 |
| authorships[25].author.display_name | Tomàs Marquès‐Bonet |
| authorships[25].countries | ES |
| authorships[25].affiliations[0].institution_ids | https://openalex.org/I11932220, https://openalex.org/I4210135169 |
| authorships[25].affiliations[0].raw_affiliation_string | Institute of Evolutionary Biology (UPF-CSIC), Catalan Institution for Research and Advanced Studies, Barcelona |
| authorships[25].institutions[0].id | https://openalex.org/I11932220 |
| authorships[25].institutions[0].ror | https://ror.org/0371hy230 |
| authorships[25].institutions[0].type | nonprofit |
| authorships[25].institutions[0].lineage | https://openalex.org/I11932220 |
| authorships[25].institutions[0].country_code | ES |
| authorships[25].institutions[0].display_name | Institució Catalana de Recerca i Estudis Avançats |
| authorships[25].institutions[1].id | https://openalex.org/I4210135169 |
| authorships[25].institutions[1].ror | https://ror.org/044mj7r89 |
| authorships[25].institutions[1].type | facility |
| authorships[25].institutions[1].lineage | https://openalex.org/I134820265, https://openalex.org/I170486558, https://openalex.org/I4210135169 |
| authorships[25].institutions[1].country_code | ES |
| authorships[25].institutions[1].display_name | Institut de Biologia Evolutiva |
| authorships[25].author_position | middle |
| authorships[25].raw_author_name | Tomas Marques-Bonet |
| authorships[25].is_corresponding | False |
| authorships[25].raw_affiliation_strings | Institute of Evolutionary Biology (UPF-CSIC), Catalan Institution for Research and Advanced Studies, Barcelona |
| authorships[26].author.id | https://openalex.org/A5067900225 |
| authorships[26].author.orcid | https://orcid.org/0000-0003-1781-5508 |
| authorships[26].author.display_name | Hailiang Mei |
| authorships[26].countries | NL |
| authorships[26].affiliations[0].institution_ids | https://openalex.org/I2800006345 |
| authorships[26].affiliations[0].raw_affiliation_string | Sequencing Analysis Support Core, Leiden University Medical Center, Leiden |
| authorships[26].institutions[0].id | https://openalex.org/I2800006345 |
| authorships[26].institutions[0].ror | https://ror.org/05xvt9f17 |
| authorships[26].institutions[0].type | healthcare |
| authorships[26].institutions[0].lineage | https://openalex.org/I2800006345 |
| authorships[26].institutions[0].country_code | NL |
| authorships[26].institutions[0].display_name | Leiden University Medical Center |
| authorships[26].author_position | middle |
| authorships[26].raw_author_name | Hailiang Mei |
| authorships[26].is_corresponding | False |
| authorships[26].raw_affiliation_strings | Sequencing Analysis Support Core, Leiden University Medical Center, Leiden |
| authorships[27].author.id | https://openalex.org/A5051978620 |
| authorships[27].author.orcid | https://orcid.org/0000-0002-0861-1450 |
| authorships[27].author.display_name | Katalin Monostory |
| authorships[27].countries | HU |
| authorships[27].affiliations[0].institution_ids | https://openalex.org/I7597260 |
| authorships[27].affiliations[0].raw_affiliation_string | Hungarian Academy of Sciences, Budapest |
| authorships[27].institutions[0].id | https://openalex.org/I7597260 |
| authorships[27].institutions[0].ror | https://ror.org/02ks8qq67 |
| authorships[27].institutions[0].type | government |
| authorships[27].institutions[0].lineage | https://openalex.org/I7597260 |
| authorships[27].institutions[0].country_code | HU |
| authorships[27].institutions[0].display_name | Hungarian Academy of Sciences |
| authorships[27].author_position | middle |
| authorships[27].raw_author_name | Katalin Monostory |
| authorships[27].is_corresponding | False |
| authorships[27].raw_affiliation_strings | Hungarian Academy of Sciences, Budapest |
| authorships[28].author.id | https://openalex.org/A5054199754 |
| authorships[28].author.orcid | https://orcid.org/0000-0003-1244-7654 |
| authorships[28].author.display_name | Janet Piñero |
| authorships[28].countries | ES |
| authorships[28].affiliations[0].institution_ids | https://openalex.org/I170486558, https://openalex.org/I4210156109 |
| authorships[28].affiliations[0].raw_affiliation_string | Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Pompeu Fabra University, Barcelona |
| authorships[28].institutions[0].id | https://openalex.org/I4210156109 |
| authorships[28].institutions[0].ror | https://ror.org/042nkmz09 |
| authorships[28].institutions[0].type | healthcare |
| authorships[28].institutions[0].lineage | https://openalex.org/I4210156109, https://openalex.org/I4387153040 |
| authorships[28].institutions[0].country_code | ES |
| authorships[28].institutions[0].display_name | Hospital del Mar Research Institute |
| authorships[28].institutions[1].id | https://openalex.org/I170486558 |
| authorships[28].institutions[1].ror | https://ror.org/04n0g0b29 |
| authorships[28].institutions[1].type | education |
| authorships[28].institutions[1].lineage | https://openalex.org/I170486558 |
| authorships[28].institutions[1].country_code | ES |
| authorships[28].institutions[1].display_name | Universitat Pompeu Fabra |
| authorships[28].author_position | middle |
| authorships[28].raw_author_name | Janet Piñero |
| authorships[28].is_corresponding | False |
| authorships[28].raw_affiliation_strings | Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Pompeu Fabra University, Barcelona |
| authorships[29].author.id | https://openalex.org/A5066638928 |
| authorships[29].author.orcid | https://orcid.org/0000-0001-6173-5674 |
| authorships[29].author.display_name | Krzysztof Poterlowicz |
| authorships[29].countries | GB |
| authorships[29].affiliations[0].institution_ids | https://openalex.org/I139894009 |
| authorships[29].affiliations[0].raw_affiliation_string | Centre for Skin Sciences, University of Bradford, Bradford |
| authorships[29].institutions[0].id | https://openalex.org/I139894009 |
| authorships[29].institutions[0].ror | https://ror.org/00vs8d940 |
| authorships[29].institutions[0].type | education |
| authorships[29].institutions[0].lineage | https://openalex.org/I139894009 |
| authorships[29].institutions[0].country_code | GB |
| authorships[29].institutions[0].display_name | University of Bradford |
| authorships[29].author_position | middle |
| authorships[29].raw_author_name | Krzysztof Poterlowicz |
| authorships[29].is_corresponding | False |
| authorships[29].raw_affiliation_strings | Centre for Skin Sciences, University of Bradford, Bradford |
| authorships[30].author.id | https://openalex.org/A5020619492 |
| authorships[30].author.orcid | https://orcid.org/0000-0003-4308-6337 |
| authorships[30].author.display_name | Ana Rath |
| authorships[30].countries | FR |
| authorships[30].affiliations[0].institution_ids | https://openalex.org/I154526488, https://openalex.org/I4210133579 |
| authorships[30].affiliations[0].raw_affiliation_string | Orphanet, INSERM, Paris |
| authorships[30].institutions[0].id | https://openalex.org/I154526488 |
| authorships[30].institutions[0].ror | https://ror.org/02vjkv261 |
| authorships[30].institutions[0].type | government |
| authorships[30].institutions[0].lineage | https://openalex.org/I154526488 |
| authorships[30].institutions[0].country_code | FR |
| authorships[30].institutions[0].display_name | Inserm |
| authorships[30].institutions[1].id | https://openalex.org/I4210133579 |
| authorships[30].institutions[1].ror | https://ror.org/03d3kf570 |
| authorships[30].institutions[1].type | other |
| authorships[30].institutions[1].lineage | https://openalex.org/I4210133579 |
| authorships[30].institutions[1].country_code | FR |
| authorships[30].institutions[1].display_name | Orphanet |
| authorships[30].author_position | middle |
| authorships[30].raw_author_name | Ana Rath |
| authorships[30].is_corresponding | False |
| authorships[30].raw_affiliation_strings | Orphanet, INSERM, Paris |
| authorships[31].author.id | https://openalex.org/A5084069121 |
| authorships[31].author.orcid | |
| authorships[31].author.display_name | Pubudu Samarakoon |
| authorships[31].countries | NO |
| authorships[31].affiliations[0].institution_ids | https://openalex.org/I1281400175 |
| authorships[31].affiliations[0].raw_affiliation_string | Department of Medical Genetics, Oslo University Hospital, Oslo |
| authorships[31].institutions[0].id | https://openalex.org/I1281400175 |
| authorships[31].institutions[0].ror | https://ror.org/00j9c2840 |
| authorships[31].institutions[0].type | healthcare |
| authorships[31].institutions[0].lineage | https://openalex.org/I1281400175 |
| authorships[31].institutions[0].country_code | NO |
| authorships[31].institutions[0].display_name | Oslo University Hospital |
| authorships[31].author_position | middle |
| authorships[31].raw_author_name | Pubudu Samarakoon |
| authorships[31].is_corresponding | False |
| authorships[31].raw_affiliation_strings | Department of Medical Genetics, Oslo University Hospital, Oslo |
| authorships[32].author.id | https://openalex.org/A5056335906 |
| authorships[32].author.orcid | https://orcid.org/0000-0002-7534-7661 |
| authorships[32].author.display_name | Ferrán Sanz |
| authorships[32].countries | ES |
| authorships[32].affiliations[0].institution_ids | https://openalex.org/I170486558, https://openalex.org/I4210156109 |
| authorships[32].affiliations[0].raw_affiliation_string | Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Pompeu Fabra University, Barcelona |
| authorships[32].institutions[0].id | https://openalex.org/I4210156109 |
| authorships[32].institutions[0].ror | https://ror.org/042nkmz09 |
| authorships[32].institutions[0].type | healthcare |
| authorships[32].institutions[0].lineage | https://openalex.org/I4210156109, https://openalex.org/I4387153040 |
| authorships[32].institutions[0].country_code | ES |
| authorships[32].institutions[0].display_name | Hospital del Mar Research Institute |
| authorships[32].institutions[1].id | https://openalex.org/I170486558 |
| authorships[32].institutions[1].ror | https://ror.org/04n0g0b29 |
| authorships[32].institutions[1].type | education |
| authorships[32].institutions[1].lineage | https://openalex.org/I170486558 |
| authorships[32].institutions[1].country_code | ES |
| authorships[32].institutions[1].display_name | Universitat Pompeu Fabra |
| authorships[32].author_position | middle |
| authorships[32].raw_author_name | Ferran Sanz |
| authorships[32].is_corresponding | False |
| authorships[32].raw_affiliation_strings | Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Pompeu Fabra University, Barcelona |
| authorships[33].author.id | https://openalex.org/A5079237705 |
| authorships[33].author.orcid | https://orcid.org/0000-0002-7468-0008 |
| authorships[33].author.display_name | Gary Saunders |
| authorships[33].affiliations[0].raw_affiliation_string | ELIXIR Hub, Hinxton |
| authorships[33].author_position | middle |
| authorships[33].raw_author_name | Gary Saunders |
| authorships[33].is_corresponding | False |
| authorships[33].raw_affiliation_strings | ELIXIR Hub, Hinxton |
| authorships[34].author.id | https://openalex.org/A5052320264 |
| authorships[34].author.orcid | https://orcid.org/0000-0001-6762-2582 |
| authorships[34].author.display_name | Daoud Sie |
| authorships[34].countries | NL |
| authorships[34].affiliations[0].institution_ids | https://openalex.org/I4210151833, https://openalex.org/I865915315 |
| authorships[34].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Medical Centre, Amsterdam |
| authorships[34].institutions[0].id | https://openalex.org/I4210151833 |
| authorships[34].institutions[0].ror | https://ror.org/05grdyy37 |
| authorships[34].institutions[0].type | healthcare |
| authorships[34].institutions[0].lineage | https://openalex.org/I4210151833 |
| authorships[34].institutions[0].country_code | NL |
| authorships[34].institutions[0].display_name | Amsterdam University Medical Centers |
| authorships[34].institutions[1].id | https://openalex.org/I865915315 |
| authorships[34].institutions[1].ror | https://ror.org/008xxew50 |
| authorships[34].institutions[1].type | education |
| authorships[34].institutions[1].lineage | https://openalex.org/I865915315 |
| authorships[34].institutions[1].country_code | NL |
| authorships[34].institutions[1].display_name | Vrije Universiteit Amsterdam |
| authorships[34].author_position | middle |
| authorships[34].raw_author_name | Daoud Sie |
| authorships[34].is_corresponding | False |
| authorships[34].raw_affiliation_strings | Department of Clinical Genetics, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Medical Centre, Amsterdam |
| authorships[35].author.id | https://openalex.org/A5052368642 |
| authorships[35].author.orcid | https://orcid.org/0000-0002-0979-3401 |
| authorships[35].author.display_name | Morris A. Swertz |
| authorships[35].countries | NL |
| authorships[35].affiliations[0].institution_ids | https://openalex.org/I1334415907, https://openalex.org/I169381384 |
| authorships[35].affiliations[0].raw_affiliation_string | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen |
| authorships[35].institutions[0].id | https://openalex.org/I1334415907 |
| authorships[35].institutions[0].ror | https://ror.org/03cv38k47 |
| authorships[35].institutions[0].type | healthcare |
| authorships[35].institutions[0].lineage | https://openalex.org/I1334415907 |
| authorships[35].institutions[0].country_code | NL |
| authorships[35].institutions[0].display_name | University Medical Center Groningen |
| authorships[35].institutions[1].id | https://openalex.org/I169381384 |
| authorships[35].institutions[1].ror | https://ror.org/012p63287 |
| authorships[35].institutions[1].type | education |
| authorships[35].institutions[1].lineage | https://openalex.org/I169381384 |
| authorships[35].institutions[1].country_code | NL |
| authorships[35].institutions[1].display_name | University of Groningen |
| authorships[35].author_position | middle |
| authorships[35].raw_author_name | Morris A. Swertz |
| authorships[35].is_corresponding | False |
| authorships[35].raw_affiliation_strings | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen |
| authorships[36].author.id | https://openalex.org/A5035314953 |
| authorships[36].author.orcid | https://orcid.org/0000-0003-1573-5782 |
| authorships[36].author.display_name | Kirill Tsukanov |
| authorships[36].countries | GB |
| authorships[36].affiliations[0].institution_ids | https://openalex.org/I1303153112 |
| authorships[36].affiliations[0].raw_affiliation_string | European Molecular Biology Laboratory, EMBL European Bioinformatics Institute, Wellcome Genome Campus, Hinxton |
| authorships[36].institutions[0].id | https://openalex.org/I1303153112 |
| authorships[36].institutions[0].ror | https://ror.org/02catss52 |
| authorships[36].institutions[0].type | facility |
| authorships[36].institutions[0].lineage | https://openalex.org/I1303153112, https://openalex.org/I4210138560 |
| authorships[36].institutions[0].country_code | GB |
| authorships[36].institutions[0].display_name | European Bioinformatics Institute |
| authorships[36].author_position | middle |
| authorships[36].raw_author_name | Kirill Tsukanov |
| authorships[36].is_corresponding | False |
| authorships[36].raw_affiliation_strings | European Molecular Biology Laboratory, EMBL European Bioinformatics Institute, Wellcome Genome Campus, Hinxton |
| authorships[37].author.id | https://openalex.org/A5015217651 |
| authorships[37].author.orcid | https://orcid.org/0000-0002-8937-6789 |
| authorships[37].author.display_name | Alfonso Valencia |
| authorships[37].countries | ES |
| authorships[37].affiliations[0].institution_ids | https://openalex.org/I2799803557, https://openalex.org/I9617848 |
| authorships[37].affiliations[0].raw_affiliation_string | Barcelona Supercomputing Center, Barcelona |
| authorships[37].affiliations[1].institution_ids | https://openalex.org/I11932220 |
| authorships[37].affiliations[1].raw_affiliation_string | Catalan Institution of Research and Advanced Studies, Barcelona |
| authorships[37].affiliations[2].raw_affiliation_string | Spanish National Bioinformatics Institute (INB)/ELIXIR-ES, Barcelona |
| authorships[37].institutions[0].id | https://openalex.org/I2799803557 |
| authorships[37].institutions[0].ror | https://ror.org/05sd8tv96 |
| authorships[37].institutions[0].type | facility |
| authorships[37].institutions[0].lineage | https://openalex.org/I2799803557, https://openalex.org/I9617848 |
| authorships[37].institutions[0].country_code | ES |
| authorships[37].institutions[0].display_name | Barcelona Supercomputing Center |
| authorships[37].institutions[1].id | https://openalex.org/I11932220 |
| authorships[37].institutions[1].ror | https://ror.org/0371hy230 |
| authorships[37].institutions[1].type | nonprofit |
| authorships[37].institutions[1].lineage | https://openalex.org/I11932220 |
| authorships[37].institutions[1].country_code | ES |
| authorships[37].institutions[1].display_name | Institució Catalana de Recerca i Estudis Avançats |
| authorships[37].institutions[2].id | https://openalex.org/I9617848 |
| authorships[37].institutions[2].ror | https://ror.org/03mb6wj31 |
| authorships[37].institutions[2].type | education |
| authorships[37].institutions[2].lineage | https://openalex.org/I9617848 |
| authorships[37].institutions[2].country_code | ES |
| authorships[37].institutions[2].display_name | Universitat Politècnica de Catalunya |
| authorships[37].author_position | middle |
| authorships[37].raw_author_name | Alfonso Valencia |
| authorships[37].is_corresponding | False |
| authorships[37].raw_affiliation_strings | Barcelona Supercomputing Center, Barcelona, Catalan Institution of Research and Advanced Studies, Barcelona, Spanish National Bioinformatics Institute (INB)/ELIXIR-ES, Barcelona |
| authorships[38].author.id | https://openalex.org/A5008770054 |
| authorships[38].author.orcid | https://orcid.org/0000-0001-7901-3936 |
| authorships[38].author.display_name | Marko Vidak |
| authorships[38].countries | SI |
| authorships[38].affiliations[0].institution_ids | https://openalex.org/I153976015 |
| authorships[38].affiliations[0].raw_affiliation_string | Faculty of Medicine - ELIXIR Slovenia, University of Ljubljana, Ljubljana |
| authorships[38].institutions[0].id | https://openalex.org/I153976015 |
| authorships[38].institutions[0].ror | https://ror.org/05njb9z20 |
| authorships[38].institutions[0].type | education |
| authorships[38].institutions[0].lineage | https://openalex.org/I153976015 |
| authorships[38].institutions[0].country_code | SI |
| authorships[38].institutions[0].display_name | University of Ljubljana |
| authorships[38].author_position | middle |
| authorships[38].raw_author_name | Marko Vidak |
| authorships[38].is_corresponding | False |
| authorships[38].raw_affiliation_strings | Faculty of Medicine - ELIXIR Slovenia, University of Ljubljana, Ljubljana |
| authorships[39].author.id | https://openalex.org/A5076792141 |
| authorships[39].author.orcid | https://orcid.org/0000-0003-3999-4957 |
| authorships[39].author.display_name | Cristina González |
| authorships[39].countries | GB |
| authorships[39].affiliations[0].institution_ids | https://openalex.org/I1303153112 |
| authorships[39].affiliations[0].raw_affiliation_string | European Molecular Biology Laboratory, EMBL European Bioinformatics Institute, Wellcome Genome Campus, Hinxton |
| authorships[39].institutions[0].id | https://openalex.org/I1303153112 |
| authorships[39].institutions[0].ror | https://ror.org/02catss52 |
| authorships[39].institutions[0].type | facility |
| authorships[39].institutions[0].lineage | https://openalex.org/I1303153112, https://openalex.org/I4210138560 |
| authorships[39].institutions[0].country_code | GB |
| authorships[39].institutions[0].display_name | European Bioinformatics Institute |
| authorships[39].author_position | middle |
| authorships[39].raw_author_name | Cristina Yenyxe González |
| authorships[39].is_corresponding | False |
| authorships[39].raw_affiliation_strings | European Molecular Biology Laboratory, EMBL European Bioinformatics Institute, Wellcome Genome Campus, Hinxton |
| authorships[40].author.id | https://openalex.org/A5003271927 |
| authorships[40].author.orcid | https://orcid.org/0000-0001-9479-3010 |
| authorships[40].author.display_name | Bauke Ylstra |
| authorships[40].countries | NL |
| authorships[40].affiliations[0].institution_ids | https://openalex.org/I4210151833, https://openalex.org/I865915315 |
| authorships[40].affiliations[0].raw_affiliation_string | Department of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Medical Centre, Amsterdam |
| authorships[40].institutions[0].id | https://openalex.org/I4210151833 |
| authorships[40].institutions[0].ror | https://ror.org/05grdyy37 |
| authorships[40].institutions[0].type | healthcare |
| authorships[40].institutions[0].lineage | https://openalex.org/I4210151833 |
| authorships[40].institutions[0].country_code | NL |
| authorships[40].institutions[0].display_name | Amsterdam University Medical Centers |
| authorships[40].institutions[1].id | https://openalex.org/I865915315 |
| authorships[40].institutions[1].ror | https://ror.org/008xxew50 |
| authorships[40].institutions[1].type | education |
| authorships[40].institutions[1].lineage | https://openalex.org/I865915315 |
| authorships[40].institutions[1].country_code | NL |
| authorships[40].institutions[1].display_name | Vrije Universiteit Amsterdam |
| authorships[40].author_position | middle |
| authorships[40].raw_author_name | Bauke Ylstra |
| authorships[40].is_corresponding | False |
| authorships[40].raw_affiliation_strings | Department of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Medical Centre, Amsterdam |
| authorships[41].author.id | https://openalex.org/A5085042865 |
| authorships[41].author.orcid | https://orcid.org/0000-0003-2986-8738 |
| authorships[41].author.display_name | Christophe Béroud |
| authorships[41].countries | FR |
| authorships[41].affiliations[0].institution_ids | https://openalex.org/I21491767 |
| authorships[41].affiliations[0].raw_affiliation_string | Aix Marseille University, Marseille |
| authorships[41].affiliations[1].institution_ids | https://openalex.org/I4210087487 |
| authorships[41].affiliations[1].raw_affiliation_string | Département de Génétique Médicale et de Biologie Cellulaire, APHM, Public Assistance - Hospitals of Marseille, 13385 Marseille |
| authorships[41].institutions[0].id | https://openalex.org/I21491767 |
| authorships[41].institutions[0].ror | https://ror.org/035xkbk20 |
| authorships[41].institutions[0].type | education |
| authorships[41].institutions[0].lineage | https://openalex.org/I21491767 |
| authorships[41].institutions[0].country_code | FR |
| authorships[41].institutions[0].display_name | Aix-Marseille Université |
| authorships[41].institutions[1].id | https://openalex.org/I4210087487 |
| authorships[41].institutions[1].ror | https://ror.org/002cp4060 |
| authorships[41].institutions[1].type | healthcare |
| authorships[41].institutions[1].lineage | https://openalex.org/I4210087487 |
| authorships[41].institutions[1].country_code | FR |
| authorships[41].institutions[1].display_name | Assistance Publique Hôpitaux de Marseille |
| authorships[41].author_position | last |
| authorships[41].raw_author_name | Christophe Béroud |
| authorships[41].is_corresponding | False |
| authorships[41].raw_affiliation_strings | Aix Marseille University, Marseille, Département de Génétique Médicale et de Biologie Cellulaire, APHM, Public Assistance - Hospitals of Marseille, 13385 Marseille |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://f1000research.com/articles/9-1229/v1/pdf |
| open_access.oa_status | gold |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T11287 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9993000030517578 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1306 |
| primary_topic.subfield.display_name | Cancer Research |
| primary_topic.display_name | Cancer Genomics and Diagnostics |
| related_works | https://openalex.org/W3160690796, https://openalex.org/W2945781956, https://openalex.org/W2966875286, https://openalex.org/W2900692317, https://openalex.org/W3003405015, https://openalex.org/W4383176220, https://openalex.org/W2749889710, https://openalex.org/W2922162671, https://openalex.org/W2808982106, https://openalex.org/W2053972265 |
| cited_by_count | 6 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 1 |
| counts_by_year[1].year | 2023 |
| counts_by_year[1].cited_by_count | 1 |
| counts_by_year[2].year | 2022 |
| counts_by_year[2].cited_by_count | 2 |
| counts_by_year[3].year | 2021 |
| counts_by_year[3].cited_by_count | 2 |
| locations_count | 10 |
| best_oa_location.id | doi:10.12688/f1000research.24887.1 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S4210239046 |
| best_oa_location.source.issn | 2046-1402 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | True |
| best_oa_location.source.issn_l | 2046-1402 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | True |
| best_oa_location.source.display_name | F1000Research |
| best_oa_location.source.host_organization | https://openalex.org/P4310320357 |
| best_oa_location.source.host_organization_name | Faculty of 1000 |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310320357 |
| best_oa_location.source.host_organization_lineage_names | Faculty of 1000 |
| best_oa_location.license | cc-by |
| best_oa_location.pdf_url | https://f1000research.com/articles/9-1229/v1/pdf |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | F1000Research |
| best_oa_location.landing_page_url | https://doi.org/10.12688/f1000research.24887.1 |
| primary_location.id | doi:10.12688/f1000research.24887.1 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S4210239046 |
| primary_location.source.issn | 2046-1402 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | True |
| primary_location.source.issn_l | 2046-1402 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | True |
| primary_location.source.display_name | F1000Research |
| primary_location.source.host_organization | https://openalex.org/P4310320357 |
| primary_location.source.host_organization_name | Faculty of 1000 |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310320357 |
| primary_location.source.host_organization_lineage_names | Faculty of 1000 |
| primary_location.license | cc-by |
| primary_location.pdf_url | https://f1000research.com/articles/9-1229/v1/pdf |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | F1000Research |
| primary_location.landing_page_url | https://doi.org/10.12688/f1000research.24887.1 |
| publication_date | 2020-10-13 |
| publication_year | 2020 |
| referenced_works | https://openalex.org/W2033994951, https://openalex.org/W2104693898, https://openalex.org/W2346845651, https://openalex.org/W1998593414, https://openalex.org/W2069840339, https://openalex.org/W2027816595, https://openalex.org/W52265827, https://openalex.org/W1982251587, https://openalex.org/W2138270253, https://openalex.org/W2121591701, https://openalex.org/W2116302199, https://openalex.org/W4249777515, https://openalex.org/W7051931876, https://openalex.org/W2153056550, https://openalex.org/W2116089873, https://openalex.org/W2034197594, https://openalex.org/W2616945805, https://openalex.org/W1966340852, https://openalex.org/W2114786150, https://openalex.org/W2890995231, https://openalex.org/W1968046362, https://openalex.org/W2169519454, https://openalex.org/W2170828133, https://openalex.org/W1484187172, https://openalex.org/W2105025553, https://openalex.org/W2110227850, https://openalex.org/W2609685992, https://openalex.org/W2022385074, https://openalex.org/W2012151892, https://openalex.org/W2617530335, https://openalex.org/W2750053920, https://openalex.org/W2929354011, https://openalex.org/W2951331911, https://openalex.org/W2948452166, https://openalex.org/W2573423285, https://openalex.org/W2557385283, https://openalex.org/W1971192989, https://openalex.org/W2790950219, https://openalex.org/W2302501749, https://openalex.org/W2044540757, https://openalex.org/W2981131276, https://openalex.org/W2605742517, https://openalex.org/W2773787581 |
| referenced_works_count | 43 |
| abstract_inverted_index.a | 55, 86, 118 |
| abstract_inverted_index.11 | 102 |
| abstract_inverted_index.be | 44 |
| abstract_inverted_index.in | 9, 92, 95, 160 |
| abstract_inverted_index.is | 38, 52, 81 |
| abstract_inverted_index.of | 12, 48, 62, 85, 101, 111, 121, 155 |
| abstract_inverted_index.on | 137, 149 |
| abstract_inverted_index.to | 34, 43, 53, 108, 116, 129, 139, 151 |
| abstract_inverted_index.we | 134 |
| abstract_inverted_index.CNV | 67 |
| abstract_inverted_index.The | 46, 105 |
| abstract_inverted_index.aim | 47 |
| abstract_inverted_index.and | 15, 41, 75, 98, 114, 127, 131, 148 |
| abstract_inverted_index.are | 4, 22 |
| abstract_inverted_index.for | 28, 58 |
| abstract_inverted_index.how | 138, 150 |
| abstract_inverted_index.led | 107 |
| abstract_inverted_index.new | 157 |
| abstract_inverted_index.the | 10, 25, 59, 82, 109, 144, 153, 161 |
| abstract_inverted_index.(UK) | 97 |
| abstract_inverted_index.2018 | 94 |
| abstract_inverted_index.CNVs | 37 |
| abstract_inverted_index.This | 78 |
| abstract_inverted_index.both | 8 |
| abstract_inverted_index.from | 125 |
| abstract_inverted_index.that | 89 |
| abstract_inverted_index.this | 49, 156 |
| abstract_inverted_index.took | 90 |
| abstract_inverted_index.wide | 119 |
| abstract_inverted_index.Here, | 133 |
| abstract_inverted_index.While | 18 |
| abstract_inverted_index.align | 140 |
| abstract_inverted_index.frame | 152 |
| abstract_inverted_index.human | 16, 72 |
| abstract_inverted_index.major | 5 |
| abstract_inverted_index.paper | 51, 80 |
| abstract_inverted_index.place | 91 |
| abstract_inverted_index.range | 120 |
| abstract_inverted_index.still | 39 |
| abstract_inverted_index.tasks | 142 |
| abstract_inverted_index.their | 32 |
| abstract_inverted_index.these | 141 |
| abstract_inverted_index.white | 50, 79 |
| abstract_inverted_index.(CNVs) | 3 |
| abstract_inverted_index.ELIXIR | 103, 145, 158 |
| abstract_inverted_index.Nodes. | 104 |
| abstract_inverted_index.beyond | 71 |
| abstract_inverted_index.choice | 27 |
| abstract_inverted_index.detect | 36 |
| abstract_inverted_index.direct | 83 |
| abstract_inverted_index.future | 60 |
| abstract_inverted_index.number | 1 |
| abstract_inverted_index.result | 84 |
| abstract_inverted_index.tasks, | 115 |
| abstract_inverted_index.within | 143 |
| abstract_inverted_index.Hinxton | 96 |
| abstract_inverted_index.ability | 33 |
| abstract_inverted_index.address | 117 |
| abstract_inverted_index.disease | 73 |
| abstract_inverted_index.genesis | 11 |
| abstract_inverted_index.genetic | 13 |
| abstract_inverted_index.genomic | 29 |
| abstract_inverted_index.guiding | 56 |
| abstract_inverted_index.meeting | 88, 106 |
| abstract_inverted_index.primary | 26 |
| abstract_inverted_index.provide | 54, 135 |
| abstract_inverted_index.ranging | 124 |
| abstract_inverted_index.remains | 42 |
| abstract_inverted_index.sharing | 130 |
| abstract_inverted_index.becoming | 24 |
| abstract_inverted_index.diseases | 14 |
| abstract_inverted_index.involved | 99 |
| abstract_inverted_index.priority | 112 |
| abstract_inverted_index.recently | 64 |
| abstract_inverted_index.strategy | 87 |
| abstract_inverted_index.Community | 159 |
| abstract_inverted_index.Platforms | 146 |
| abstract_inverted_index.September | 93 |
| abstract_inverted_index.analysis, | 31 |
| abstract_inverted_index.causative | 6 |
| abstract_inverted_index.detection | 126 |
| abstract_inverted_index.framework | 57 |
| abstract_inverted_index.genomics. | 77 |
| abstract_inverted_index.screening | 30 |
| abstract_inverted_index.strategy, | 147 |
| abstract_inverted_index.training. | 132 |
| abstract_inverted_index.Community, | 68 |
| abstract_inverted_index.ELIXIR’s | 63 |
| abstract_inverted_index.activities | 154 |
| abstract_inverted_index.challenges | 123 |
| abstract_inverted_index.definition | 110 |
| abstract_inverted_index.developed. | 45 |
| abstract_inverted_index.objectives | 113 |
| abstract_inverted_index.population | 76 |
| abstract_inverted_index.sequencing | 20 |
| abstract_inverted_index.variations | 2 |
| abstract_inverted_index.<ns5:p>Copy | 0 |
| abstract_inverted_index.CNV-related | 122 |
| abstract_inverted_index.diagnostics | 74 |
| abstract_inverted_index.efficiently | 35 |
| abstract_inverted_index.established | 65 |
| abstract_inverted_index.neoplasias. | 17 |
| abstract_inverted_index.suggestions | 136 |
| abstract_inverted_index.contributors | 7 |
| abstract_inverted_index.implications | 70 |
| abstract_inverted_index.increasingly | 23 |
| abstract_inverted_index.technologies | 21 |
| abstract_inverted_index.contributions | 61 |
| abstract_inverted_index.heterogeneous | 40 |
| abstract_inverted_index.international | 162 |
| abstract_inverted_index.interpretation | 128 |
| abstract_inverted_index.representatives | 100 |
| abstract_inverted_index.context.</ns5:p> | 163 |
| abstract_inverted_index.</ns5:italic>with | 69 |
| abstract_inverted_index.“High-Throughput” | 19 |
| abstract_inverted_index.<ns5:italic>h</ns5:italic><ns5:italic>uman | 66 |
| cited_by_percentile_year.max | 96 |
| cited_by_percentile_year.min | 89 |
| countries_distinct_count | 10 |
| institutions_distinct_count | 42 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/9 |
| sustainable_development_goals[0].score | 0.6200000047683716 |
| sustainable_development_goals[0].display_name | Industry, innovation and infrastructure |
| citation_normalized_percentile.value | 0.57308609 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |