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

SUBMITTER: Wrzeszczynski KO 

PROVIDER: S-EPMC5506390 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature