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Grant support

This project has received funding from Fundacio La Marato de TV3, the European Union's Horizon 2020 research and innovation programme 2014-2020 under grant agreement number 634143, and by the European Research Council (Consolidator Grant 682398). IRB Barcelona is a recipient of a Severo Ochoa Centre of Excellence Award from the Spanish Ministry of Economy and Competitiveness (MINECO; Government of Spain) and is supported by CERCA (Generalitat de Catalunya). DT is supported by project SAF2015-74072-JIN funded by the Agencia Estatal de Investigacion (AEI) and Fondo Europeo de Desarrollo Regional (FEDER). CR-P is funded by a FPI MINECO grant (BES-2013-063354). AG-P is supported by a Ramon y Cajal fellowship (RYC-2013-14554).

Analysis of institutional authors

Rubio-Perez, CarlotaAuthor
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Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations

Publicated to:Genome Medicine. 10 (1): 25- - 2018-03-28 10(1), DOI: 10.1186/s13073-018-0531-8

Authors: Tamborero, David; Rubio-Perez, Carlota; Deu-Pons, Jordi; Schroeder, Michael P; Vivancos, Ana; Rovira, Ana; Tusquets, Ignasi; Albanell, Joan; Rodon, Jordi; Tabernero, Josep; de Torres, Carmen; Dienstmann, Rodrigo; Gonzalez-Perez, Abel; Lopez-Bigas, Nuria

Affiliations

Autonomous Univ Barcelona, Barcelona, Spain - Author
Autonomous Univ Barcelona, Vall dHebron Univ Hosp, Vall dHebron Inst Oncol, Barcelona, Spain - Author
Barcelona Inst Sci & Technol, Inst Res Biomed IRB Barcelona, Barcelona, Spain - Author
Charite, Berlin, Germany - Author
Hosp del Mar Med Res Inst IMIM, Barcelona, Spain - Author
Hosp del Mar Med Res Inst IMIM, Res Program Biomed Informat GRIB, Barcelona, Spain - Author
Hosp del Mar, CIBERONC, Dept Oncol, Barcelona, Spain - Author
Hosp St Joan de Deu Barcelona, Inst Recerca Pediat, Dev Tumor Biol Lab, Barcelona, Spain - Author
ICREA, Barcelona, Spain - Author
Pompeu Fabra Univ, Barcelona, Spain - Author
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Abstract

While tumor genome sequencing has become widely available in clinical and research settings, the interpretation of tumor somatic variants remains an important bottleneck. Here we present the Cancer Genome Interpreter, a versatile platform that automates the interpretation of newly sequenced cancer genomes, annotating the potential of alterations detected in tumors to act as drivers and their possible effect on treatment response. The results are organized in different levels of evidence according to current knowledge, which we envision can support a broad range of oncology use cases. The resource is publicly available at http://www.cancergenomeinterpreter.org.

Keywords
Antineoplastic agentsBiomarkers, tumorDatabaseDatabases, geneticDrugGenes, neoplasmGenome, humanHumansLandscapeMolecular sequence annotationMutationMutationsNeoplasmsSoftware

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Genome Medicine due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2018, it was in position 6/174, thus managing to position itself as a Q1 (Primer Cuartil), in the category Genetics & Heredity. Notably, the journal is positioned above the 90th percentile.

From a relative perspective, and based on the normalized impact indicator calculated from World Citations provided by WoS (ESI, Clarivate), it yields a value for the citation normalization relative to the expected citation rate of: 12.21. This indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: ESI Nov 14, 2024)

This information is reinforced by other indicators of the same type, which, although dynamic over time and dependent on the set of average global citations at the time of their calculation, consistently position the work at some point among the top 50% most cited in its field:

  • Field Citation Ratio (FCR) from Dimensions: 58.47 (source consulted: Dimensions May 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-05-07, the following number of citations:

  • WoS: 356
  • Scopus: 376
  • Europe PMC: 322
  • OpenCitations: 376
Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-05-07:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 448.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 448 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 38.88.
  • The number of mentions on the social network Facebook: 1 (Altmetric).
  • The number of mentions on the social network X (formerly Twitter): 48 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Germany.