A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.

Détails

Ressource 1Télécharger: 32246132_BIB_20B4C06420B1.pdf (4689.92 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_20B4C06420B1
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.
Périodique
Nature genetics
Auteur⸱e⸱s
Wagner A.H., Walsh B., Mayfield G., Tamborero D., Sonkin D., Krysiak K., Deu-Pons J., Duren R.P., Gao J., McMurry J., Patterson S., Del Vecchio Fitz C., Pitel B.A., Sezerman O.U., Ellrott K., Warner J.L., Rieke D.T., Aittokallio T., Cerami E., Ritter D.I., Schriml L.M., Freimuth R.R., Haendel M., Raca G., Madhavan S., Baudis M., Beckmann J.S., Dienstmann R., Chakravarty D., Li X.S., Mockus S., Elemento O., Schultz N., Lopez-Bigas N., Lawler M., Goecks J., Griffith M., Griffith O.L., Margolin A.A.
Collaborateur⸱rice⸱s
Variant Interpretation for Cancer Consortium
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Statut éditorial
Publié
Date de publication
04/2020
Peer-reviewed
Oui
Volume
52
Numéro
4
Pages
448-457
Langue
anglais
Notes
Publication types: Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
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.
Mots-clé
Databases, Genetic, Diploidy, Genetic Variation/genetics, Genomics/methods, Humans, Knowledge Bases, Neoplasms/genetics, Precision Medicine/methods
Pubmed
Web of science
Open Access
Oui
Création de la notice
06/07/2020 15:15
Dernière modification de la notice
30/04/2021 7:08
Données d'usage