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

Volume: 52, Issue: 4, Pages: 448 - 457
Published: Apr 1, 2020
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...
Paper Details
Title
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer
Published Date
Apr 1, 2020
Volume
52
Issue
4
Pages
448 - 457
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