Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens.

doi:10.1016/j.jmoldx.2013.08.004

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Article

Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens.

The Journal of molecular diagnostics : JMD - 1 Jan 2014

Pritchard Colin C, Salipante Stephen J, Koehler Karen, Smith Christina, Scroggins Sheena, Wood Brent, Wu David, Lee Ming K, Dintzis Suzanne, Adey Andrew, Liu Yajuan, Eaton Keith D, Martins Renato, Stricker Kari, Margolin Kim A, Hoffman Noah, Churpek Jane E, Tait Jonathan F, King Mary-Claire, Walsh Tom

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24189654
DOI: 10.1016/j.jmoldx.2013.08.004
PMCID: PMC3873496

Genes

ALK
ASXL1
BCR
EML4
GRIK4
PML
RARA
ROS1
SGCZ

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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