dc.contributor
Institut Català de la Salut
dc.contributor
[Wagner AH, Krysiak K] Washington University School of Medicine, St. Louis, MO, USA. [Walsh B, Mayfield G] Oregon Health and Science University, Portland, OR, USA. [Tamborero D] Pompeu Fabra University, Barcelona, Spain. Karolinska Institute, Solna, Sweden. [Sonkin D] National Cancer Institute, Rockville, MD, USA. [Dienstmann R] Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Wagner, Alex H.
dc.contributor.author
Walsh, Brian
dc.contributor.author
Mayfield, Georgia
dc.contributor.author
Tamborero, David
dc.contributor.author
Sonkin, Dmitriy
dc.contributor.author
Krysiak, Kilannin
dc.contributor.author
Dienstmann, Rodrigo
dc.date.accessioned
2025-10-25T05:39:31Z
dc.date.available
2025-10-25T05:39:31Z
dc.date.issued
2021-08-24T11:15:40Z
dc.date.issued
2021-08-24T11:15:40Z
dc.identifier
Wagner AH, Walsh B, Mayfield G, Tamborero D, Sonkin D, Krysiak K, et al. A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer. Nat Genet. 2020 Apr;52(4):448-457.
dc.identifier
https://hdl.handle.net/11351/6233
dc.identifier
10.1038/s41588-020-0603-8
dc.identifier
000523115400003
dc.identifier.uri
http://hdl.handle.net/11351/6233
dc.description.abstract
Càncer: Investigació genètica
dc.description.abstract
Cáncer; Investigación genética
dc.description.abstract
Cancer; Genetics research
dc.description.abstract
Precision oncology relies on accurate discovery and interpretation of genomic variants, enabling individualized diagnosis, prognosis and therapy selection. We found that six prominent somatic cancer variant knowledgebases were highly disparate in content, structure and supporting primary literature, impeding consensus when evaluating variants and their relevance in a clinical setting. We developed a framework for harmonizing variant interpretations to produce a meta-knowledgebase of 12,856 aggregate interpretations. We demonstrated large gains in overlap between resources across variants, diseases and drugs as a result of this harmonization. We subsequently demonstrated improved matching between a patient cohort and harmonized interpretations of potential clinical significance, observing an increase from an average of 33% per individual knowledgebase to 57% in aggregate. Our analyses illuminate the need for open, interoperable sharing of variant interpretation data. We also provide a freely available web interface (search.cancervariants.org) for exploring the harmonized interpretations from these six knowledgebases.
dc.format
application/pdf
dc.publisher
Nature Research
dc.relation
Nature Genetics;52(4)
dc.relation
https://www.nature.com/articles/s41588-020-0603-8
dc.relation
info:eu-repo/grantAgreement/EC/H2020/682398
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Intel·ligència artificial - Aplicacions a la medicina
dc.subject
Medicina personalitzada
dc.subject
INFORMATION SCIENCE::Information Science::Computing Methodologies::Algorithms::Artificial Intelligence::Knowledge Bases
dc.subject
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Precision Medicine
dc.subject
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation
dc.subject
CIENCIA DE LA INFORMACIÓN::Ciencias de la información::metodologías computacionales::algoritmos::inteligencia artificial::bases del conocimiento
dc.subject
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::medicina de precisión
dc.subject
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética
dc.title
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
