Article
Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing: A Solution for Transferring Integrated Pangenomic Studies into Routine Practice?
The Journal of molecular diagnostics : JMD - 1 Sept 2017
Garinet Simon, Néou Mario, de La Villéon Bruno, Faillot Simon, Sakat Julien, Da Fonseca Juliana P, Jouinot Anne, Le Tourneau Christophe, Kamal Maud, Luscap-Rondof Windy, Boeva Valentina, Gaujoux Sebastien, Vidaud Michel, Pasmant Eric, Letourneur Franck, Bertherat Jérôme, Assié Guillaume
Abstract excerpt
Pangenomic studies identified distinct molecular classes for many cancers, with major clinical applications. However, routine use requires cost-effective assays. We assessed whether targeted next-generation sequencing (NGS) could call chromosomal alterations and DNA methylation status. A training set of 77 tumors and a validation set of 449 (43 tumor types) were analyzed by targeted NGS and single-nucleotide...
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