Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma.
Neurol Genet
; 3(4): e164, 2017 Aug.
Article
em En
| MEDLINE
| ID: mdl-28740869
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Neurol Genet
Ano de publicação:
2017
Tipo de documento:
Article