Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing.

ABSTRACT: As more clinically relevant cancer genes are identified, comprehensive diagnostic approaches are needed to match patients to therapies, raising the challenge of optimization and analytical validation of assays that interrogate millions of bases of cancer genomes altered by multiple mechanisms. Here we describe a test based on massively parallel DNA sequencing to characterize base substitutions, short insertions and deletions (indels), copy number alterations and selected fusions across 287 cancer-related genes from routine formalin-fixed and paraffin-embedded (FFPE) clinical specimens. We implemented a practical validation strategy with reference samples of pooled cell lines that model key determinants of accuracy, including mutant allele frequency, indel length and amplitude of copy chang

SUBMITTER: Frampton GM 

PROVIDER: S-EPMC5710001 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature