Dataset Information

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.

Clinicaltrialsgov identifier

NCT02725684.

SUBMITTER: Wrzeszczynski KO

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

REPOSITORIES: biostudies-literature

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Publications

Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma.

Wrzeszczynski Kazimierz O KO Frank Mayu O MO Koyama Takahiko T Rhrissorrakrai Kahn K Robine Nicolas N Utro Filippo F Emde Anne-Katrin AK Chen Bo-Juen BJ Arora Kanika K Shah Minita M Vacic Vladimir V Norel Raquel R Bilal Erhan E Bergmann Ewa A EA Moore Vogel Julia L JL Bruce Jeffrey N JN Lassman Andrew B AB Canoll Peter P Grommes Christian C Harvey Steve S Parida Laxmi L Michelini Vanessa V VV Zody Michael C MC Jobanputra Vaidehi V Royyuru Ajay K AK Darnell Robert B RB

Neurology. Genetics 20170711 4

<h4>Objective</h4>To analyze a glioblastoma tumor specimen with 3 different platforms and compare potentially actionable calls from each.<h4>Methods</h4>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 ...[more]

PMID: 28740869

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Dataset Information

Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma.

Objective

Methods

Results

Conclusions

Clinicaltrialsgov identifier

Publications

Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma.

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