Authors: | Wrzeszczynski, K. O.; Frank, M. O.; Koyama, T.; Rhrissorrakrai, K.; Robine, N.; Utro, F.; Emde, A. K.; Chen, B. J.; Arora, K.; Shah, M.; Vacic, V.; Norel, R.; Bilal, E.; Bergmann, E. A.; Vogel, J. L. M.; Bruce, J. N.; Lassman, A. B.; Canoll, P.; Grommes, C.; Harvey, S.; Parida, L.; Michelini, V. V.; Zody, M. C.; Jobanputra, V.; Royyuru, A. K.; Darnell, R. B. |
Article Title: | Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma |
Abstract: | Objective: To analyze a glioblastoma tumor specimen with 3 different platforms and compare potentially actionable calls from each. Methods: Tumor DNA was analyzed by a commercial targeted panel. In addition, tumor-normal DNA was analyzed by whole-genome sequencing (WGS) and tumor RNA was analyzed by RNA sequencing (RNA-seq). The WGS and RNA-seq data were analyzed by a team of bioinformaticians and cancer oncologists, and separately by IBM Watson Genomic Analytics (WGA), an automated system for prioritizing somatic variants and identifying drugs. Results: More variants were identified by WGS/RNA analysis than by targeted panels. WGA completed a comparable analysis in a fraction of the time required by the human analysts. Conclusions: The development of an effective human-machine interface in the analysis of deep cancer genomic datasets may provide potentially clinically actionable calls for individual patients in a more timely and efficient manner than currently possible. ClinicalTrials.gov identifier: NCT02725684. Copyright © 2017 The Author(s). |
Keywords: | clinical article; controlled study; human tissue; aged; sequence analysis; single nucleotide polymorphism; case report; bevacizumab; cancer growth; treatment duration; cancer radiotherapy; temozolomide; nuclear magnetic resonance imaging; brain tumor; cancer diagnosis; gene targeting; computer assisted tomography; multiple cycle treatment; tumor volume; lomustine; rna; genome analysis; confusion; death; dna; glioblastoma; genomics; headache; tumor growth; tumor gene; dna determination; brain surgery; brain ventricle peritoneum shunt; rna sequence; parietal lobe; deterioration; drug identification; walking difficulty; oncologist; indel mutation; human; male; priority journal; article; whole genome sequencing; agnosia; watson genomic analytics |
Journal Title: | Neurology-Genetics |
Volume: | 3 |
Issue: | 4 |
ISSN: | 2376-7839 |
Publisher: | Lippincott Williams & Wilkins |
Date Published: | 2017-08-01 |
Start Page: | e164 |
Language: | English |
DOI: | 10.1212/nxg.0000000000000164 |
PROVIDER: | scopus |
PMCID: | PMC5506390 |
PUBMED: | 28740869 |
DOI/URL: | |
Notes: | Article -- Export Date: 1 October 2018 -- Source: Scopus |