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Article

Diagnostic Targeted Sequencing Panel for Hepatocellular Carcinoma Genomic Screening.

The Journal of molecular diagnostics : JMD - 1 Nov 2018

Paradiso Viola, Garofoli Andrea, Tosti Nadia, Lanzafame Manuela, Perrina Valeria, Quagliata Luca, Matter Matthias S, Wieland Stefan, Heim Markus H, Piscuoglio Salvatore, Ng Charlotte K Y, Terracciano Luigi M

Abstract excerpt

Commercially available targeted panels miss genomic regions frequently altered in hepatocellular carcinoma (HCC). We sought to design and benchmark a sequencing assay for genomic screening of HCC. We designed an AmpliSeq custom panel targeting all exons of 33 protein-coding and two long noncoding RNA genes frequently mutated in HCC, TERT promoter, and nine genes with frequent copy number alterations. By using...

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PMID: 30142445
DOI: 10.1016/j.jmoldx.2018.07.003

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TERT

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