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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorWagner, Alex H.
dc.contributor.authorWalsh, Brian
dc.contributor.authorMayfield, Georgia
dc.contributor.authorTamborero, David
dc.contributor.authorSonkin, Dmitriy
dc.contributor.authorKrysiak, Kilannin
dc.contributor.authorDienstmann, Rodrigo
dc.date.accessioned2021-08-24T11:15:40Z
dc.date.available2021-08-24T11:15:40Z
dc.date.issued2020-04
dc.identifier.citationWagner 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.issn1546-1718
dc.identifier.urihttp://hdl.handle.net/11351/6233
dc.descriptionCancer; Genetics research
dc.description.abstractPrecision 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.language.isoeng
dc.publisherNature Research
dc.relation.ispartofseriesNature Genetics;52(4)
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectIntel·ligència artificial - Aplicacions a la medicina
dc.subjectGenòmica
dc.subjectMedicina personalitzada
dc.subject.meshKnowledge Bases
dc.subject.meshPrecision Medicine
dc.subject.meshGenetic Variation
dc.titleA harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1038/s41588-020-0603-8
dc.subject.decsbases del conocimiento
dc.subject.decsmedicina de precisión
dc.subject.decsvariación genética
dc.relation.publishversionhttps://www.nature.com/articles/s41588-020-0603-8
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[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.identifier.pmid32246132
dc.identifier.wos000523115400003
dc.relation.projectidinfo:eu-repo/grantAgreement/EC/H2020/682398
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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