Show simple item record

dc.contributor.authorWagner, A.H.
dc.contributor.authorSchriml, L.M.
dc.contributor.authorVariant Interpretation for Cancer Consortium
dc.date.accessioned2020-04-21T19:42:27Z
dc.date.available2020-04-21T19:42:27Z
dc.date.issued2020
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85083041229&doi=10.1038%2fs41588-020-0603-8&partnerID=40&md5=3490ff7e92a0861dcf4cb6093fa0ada3
dc.identifier.urihttp://hdl.handle.net/10713/12626
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.en_US
dc.description.urihttps://doi.org/10.1038/s41588-020-0603-8en_US
dc.language.isoen_USen_US
dc.publisherSpringer Natureen_US
dc.relation.ispartofNature genetics
dc.subjectgenomic variantsen_US
dc.subjectmeta-knowledgebaseen_US
dc.subject.lcshCanceren_US
dc.subject.lcshOncologyen_US
dc.titleA harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in canceren_US
dc.typeArticleen_US
dc.identifier.doi10.1038/s41588-020-0603-8
dc.identifier.pmid32246132


This item appears in the following Collection(s)

Show simple item record