Validation and Implementation of Targeted Capture and Sequencing for the Detection of Actionable Mutation, Copy Number Variation, and Gene Rearrangement in Clinical Cancer Specimens

Abstract

Recent years have seen development and implementation of anticancer therapies targeted to particular gene mutations, but methods to assay clinical cancer specimens in a comprehensive way for the critical mutations remain underdeveloped. We have developed UW-OncoPlex, a clinical molecular diagnostic assay to provide simultaneous deep-sequencing information, based on >500× average coverage, for all classes of mutations in 194 clinically relevant genes. To validate UW-OncoPlex, clinical specimens cancer in clinical of mutations and gene and gene and and and the the assay mutations in and gene of and in and of and in To and and of developed a for and clinically Recent years have seen development and implementation of anticancer therapies targeted to particular gene mutations, but methods to assay clinical cancer specimens in a comprehensive way for the critical mutations remain underdeveloped. We have developed UW-OncoPlex, a clinical molecular diagnostic assay to provide simultaneous deep-sequencing information, based on >500× average coverage, for all classes of mutations in 194 clinically relevant genes. To validate UW-OncoPlex, clinical specimens cancer in clinical of mutations and gene and gene and and and the the assay mutations in and gene of and in and of and in To and and of developed a for and clinically of in the of the for the of of a for cancer the diagnostic for the of to for the of a in cancer mutations in the of cancer to mutations in clinical to gene mutations in and of to and and a diagnostic have clinical the in and have in for mutations and to the of targeted cancer therapies and of cancer mutations the of and in mutations in and in and mutations in of a in and the of clinical for the molecular of targeted therapies for molecular and the of to a the of specimens and of the for and for molecular clinical for and classes of mutations in a remain clinical a of in a of critical cancer gene mutations in clinical for of mutations to targeted in have developed for mutations in clinical specimens in a comprehensive but have on a of and of mutations in targeted of in clinical of cancer and of a for and for to a clinical diagnostic development and clinical of a targeted assay for 194 UW-OncoPlex, a comprehensive diagnostic for of all in and assay to the and molecular of a of clinical and to of in the assay on the of mutations to and in to for all We and to and and for and molecular of mutations a clinically targeted in a a of in and and and all the for all and of to in of for specimens for for of for a and for a and of a specimens in the of and the of the of the of and the of of a on to the for the and and comprehensive and of of in of assay the to in to the for to a of the of 194 and and of in for a of of targeted a comprehensive and of the in the in a on a comprehensive and and on a to the average of average to average for the and the of to a of the of of to for a of of in the and and and and for and and for all and the and and in cancer the to and the of to for the to and the of to for all We of but of the to mutations to mutations in the the the to the 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