Artificial intelligence-aided clinical annotation of a large multi-cancer genomic dataset Journal Article


Authors: Kehl, K. L.; Xu, W.; Gusev, A.; Bakouny, Z.; Choueiri, T. K.; Riaz, I. B.; Elmarakeby, H.; Van Allen, E. M.; Schrag, D.
Article Title: Artificial intelligence-aided clinical annotation of a large multi-cancer genomic dataset
Abstract: To accelerate cancer research that correlates biomarkers with clinical endpoints, methods are needed to ascertain outcomes from electronic health records at scale. Here, we train deep natural language processing (NLP) models to extract outcomes for participants with any of 7 solid tumors in a precision oncology study. Outcomes are extracted from 305,151 imaging reports for 13,130 patients and 233,517 oncologist notes for 13,511 patients, including patients with 6 additional cancer types. NLP models recapitulate outcome annotation from these documents, including the presence of cancer, progression/worsening, response/improvement, and metastases, with excellent discrimination (AUROC > 0.90). Models generalize to cancers excluded from training and yield outcomes correlated with survival. Among patients receiving checkpoint inhibitors, we confirm that high tumor mutation burden is associated with superior progression-free survival ascertained using NLP. Here, we show that deep NLP can accelerate annotation of molecular cancer datasets with clinically meaningful endpoints to facilitate discovery. © 2021, The Author(s).
Keywords: mutation; processing; biomarker; artificial intelligence; genomics; tumor; data set
Journal Title: Nature Communications
Volume: 12
ISSN: 2041-1723
Publisher: Nature Publishing Group  
Date Published: 2021-12-15
Start Page: 7304
Language: English
DOI: 10.1038/s41467-021-27358-6
PROVIDER: scopus
PMCID: PMC8674229
PUBMED: 34911934
DOI/URL:
Notes: Article -- Export Date: 3 January 2022 -- Source: Scopus
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  1. Deborah Schrag
    229 Schrag